ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)

gnomAD frequency: 0.00429  dbSNP: rs58093963
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224895 SCV000281294 likely benign not provided 2016-02-10 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001079332 SCV000290096 benign Alstrom syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000224895 SCV000534468 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445367 SCV000536979 benign Monogenic diabetes 2018-05-18 criteria provided, single submitter research ACMG criteria: BP4 (7 predictors), REVEL of 0.02, BS1 (1.93% in Ashkenazi Jewish and 1.33% in Africans), BS2 (5 homozygotes in African and European ExAC), BP1 (missense in gene with truncating cause disease), NOTE: likely in LD with rs75145370= benign
Genetic Services Laboratory, University of Chicago RCV001729468 SCV002070956 benign not specified 2018-09-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001079332 SCV002605260 uncertain significance Alstrom syndrome criteria provided, single submitter research Potent mutations in ALMS1 are associated with a rare condition called Alstrom syndrome. It can cause excessive eating, insulin resistance. However, no evidence is found to ascertain the role of rs58093963 in Alstrom syndrome yet.
Ambry Genetics RCV002365167 SCV002656898 benign Cardiovascular phenotype 2019-02-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729468 SCV001978278 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224895 SCV001979776 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001079332 SCV002082829 benign Alstrom syndrome 2019-12-02 no assertion criteria provided clinical testing

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