ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) (rs142062146)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087969 SCV000642294 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-12-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727033 SCV000705058 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000727033 SCV000728569 likely benign not provided 2021-02-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727033 SCV001148360 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000596269 SCV001159710 uncertain significance not specified 2018-07-12 criteria provided, single submitter clinical testing The IGHMBP2 c.1064C>T; p.Ala355Val variant (rs142062146) is reported in the literature in the homozygous state in an individual who was affected with schizophrenia or schizoaffective disorder; however, the contribution of this variant to the phenotype is not known (Need 2012). This variant is reported in ClinVar (Variation ID: 466572) and is found in the African population with an overall allele frequency of 0.73% (175/24,020 alleles) in the Genome Aggregation Database. The alanine at codon 355 is highly conserved (Alamut v.2.11) and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, the clinical significance of this variant is uncertain at this time.
Illumina Clinical Services Laboratory,Illumina RCV001109641 SCV001267002 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174193 SCV001337319 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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