ClinVar Miner

Submissions for variant Multiple alleles

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Total submissions: 27
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000170538 SCV000223133 pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 2014-12-02 criteria provided, single submitter research
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000170540 SCV000223135 pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 2014-12-02 criteria provided, single submitter research
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000170541 SCV000223136 pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 2014-12-02 criteria provided, single submitter research
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000170542 SCV000223137 pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 2014-12-02 criteria provided, single submitter research
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000170543 SCV000223138 pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 2014-12-02 criteria provided, single submitter research
Neurogenetics Research Program, University of Adelaide RCV001796558 SCV001737589 likely pathogenic Cerebral palsy 2021-06-10 criteria provided, single submitter research
Genomic Diagnostics Laboratory, National Institute of Medical Genomics RCV001647442 SCV001761655 pathogenic ALG1-congenital disorder of glycosylation 2021-07-23 criteria provided, single submitter research This variant in ALG1 gene has been never reported , and was absent from large population studies. Additionally, an in vitro functional study performed by our group indicate that it retaines the intron 1. In summary, this variant meets ACMG criteria to be classified as pathogenic .
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto RCV002236175 SCV002014676 pathogenic Becker muscular dystrophy criteria provided, single submitter clinical testing A ~8Mb genomic inversion involving DMD intron 74 and a region located upstream of the PRDX4 gene was detected by Whole genome sequencing in a patient with Becker Muscular Dystrophy. Muscle mRNA analysis confirmed the presence of aberrant transcripts.
CFTR-France RCV002284246 SCV002573607 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Institute of Human Genetics, University of Leipzig Medical Center RCV002284571 SCV002573932 pathogenic Cystic fibrosis 2022-09-05 criteria provided, single submitter curation This variant was identified in 1 patient with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1, PM2_SUP, PM3_STR, PP4 This variant has previously been described in the literature as: c.(164+1_165-1)_(1584+1_1585-1)del(2619+1_2620-1) or CFTRdele3-10,14b-16
Clinical Biochemistry Laboratory, Health Services Laboratory RCV003447385 SCV004174335 pathogenic Primary hyperoxaluria, type II 2023-10-27 criteria provided, single submitter clinical testing ACMG:PVS1 PS3 PM2 PM3 PP4
OMIM RCV000000279 SCV000020423 pathogenic Xeroderma pigmentosum, group C 1993-12-01 no assertion criteria provided literature only
OMIM RCV001799584 SCV000021227 risk factor Myocardial infarction, susceptibility to 2006-01-01 no assertion criteria provided literature only
OMIM RCV000011206 SCV000031433 pathogenic X-linked Alport syndrome 2019-01-31 no assertion criteria provided literature only
OMIM RCV000014500 SCV000034751 risk factor Coronary heart disease, susceptibility to, 7 2004-10-01 no assertion criteria provided literature only
OMIM RCV000015427 SCV000035692 uncertain significance Epilepsy, idiopathic generalized, susceptibility to 2005-10-01 no assertion criteria provided literature only
OMIM RCV000015532 SCV000035797 benign APOLIPOPROTEIN(a), TYPE C POLYMORPHISM 2020-08-07 no assertion criteria provided literature only
OMIM RCV000015533 SCV000035798 benign APOLIPOPROTEIN(a), TYPE D POLYMORPHISM 2020-08-07 no assertion criteria provided literature only
OMIM RCV000016022 SCV000036289 pathogenic Guttmacher syndrome 2002-05-01 no assertion criteria provided literature only
OMIM RCV000022537 SCV000043826 risk factor Pregnancy loss, recurrent, susceptibility to, 3 2007-03-01 no assertion criteria provided literature only
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186455 SCV000239812 pathogenic Primary hyperoxaluria, type II 2014-11-27 no assertion criteria provided research
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV000239375 SCV000257477 pathogenic Congenital disorders of glycosylation type II no assertion criteria provided research
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000495844 SCV000581393 likely pathogenic Autosomal recessive nonsyndromic hearing loss 63 2016-08-31 no assertion criteria provided clinical testing MYH9 gene: The mutation c.922G>A (p.V308I) in exon 9 of MYH9 gene is reported in 1000 genome (0.04%) and ExAc (0.01%) databases and it is found to be pathogenic by Mutation Taster2, SIFT, Polyphen2 and LRT. The dbSNP number of this mutation is rs577429531. LRTOMT gene: The variant c.613_614insAGCT in exon 9 of LRTOMT gene is not reported in 1000 Genome and ExAC databases and it is found to be damaging by Mutation Taster2. The dbSNP number of this mutation is rs797044907. The proband, born of a non-consanguineous marriage, presented with clinical indication of dysplastic semicircular canals. She was diagnosed with bilateral incomplete cochlear partition. Upon further investigation her father was found to be heterozygous for c.922G>A (p.V308 I) mutation in MYH9 gene and her mother was found to be heterozygous for c.613_614insAGCT (p.S207AfsTer 38) variant in LRTOMT gene. During subsequent pregnancy, the CVS sample of mother is found to be heterozygous for c.922G>A (p.V308I) variant in MYH9 gene.
Center for Statistical Genetics, Columbia University RCV000655893 SCV000608345 pathogenic Hearing loss, autosomal recessive 2017-10-26 no assertion criteria provided research Digenic inheritance
Centro Nacional de Biotecnologia, Consejo Superior de Investigaciones Cientificas RCV001171633 SCV000999906 affects Rheumatoid arthritis 2019-11-30 no assertion criteria provided research Using four independent cohorts of arthritic patients, we identified an inverse correlation between SOCS1 mRNA expression and disease activity. Lower baseline SOCS1 levels were associated with poorer disease control. In vitro expression assays indicated that the minor allele of rs4780355 correlated with reduced SOCS1 expression, supporting a functional relationship between this SNP and disease progression, but only when the microsatellite 3x(TTTTC) is cis-acting.
Servicio de Hematología y Oncología médica, Universidad de Murcia RCV001779980 SCV002016218 pathogenic Hereditary antithrombin deficiency no assertion criteria provided research AntiFXa 54%; Ag 41%
Undiagnosed Diseases Network, NIH RCV002509904 SCV002818563 pathogenic SSR4-congenital disorder of glycosylation 2022-03-15 no assertion criteria provided clinical testing It showed that there is a deletion which involves IDH3G, PLXNB3, SRPK3, SSR4, and HG38. This is on chromosome X and is described as G (153757278_153757299DEL; 153757300_153778281INV; 153778282_153795224DEL). This is a de novo variant which is associated with Congenital Disorder of Glycosylation type 1Y.

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