ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn)

gnomAD frequency: 0.02251  dbSNP: rs28730853
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443791 SCV000531894 benign not specified 2016-10-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445426 SCV000536971 benign Monogenic diabetes 2019-01-25 criteria provided, single submitter research ACMG criteria: BP4 (REVEL score 0.033 + 7 predictors, not using PP3/2 predictors), BA1 (17.7% in gnomAD latino, 3% overall MAF), BS2 (652 homozygotes in gnomAD), BP1 (missense in gene with truncating cause disease): Benign; likely in cis with the other ALMS1 variant
Labcorp Genetics (formerly Invitae), Labcorp RCV001079465 SCV000554303 benign Alstrom syndrome 2024-02-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000443791 SCV000711882 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Lys1653Asn in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 19.52% (2252/11536) of Latino chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs28730853).
Athena Diagnostics RCV000710532 SCV000840772 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001079465 SCV002605256 likely benign 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 rs28730853 in Alstrom syndrome yet.
Ambry Genetics RCV002339078 SCV002642137 benign Cardiovascular phenotype 2018-12-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Breakthrough Genomics, Breakthrough Genomics RCV000710532 SCV005242456 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001079465 SCV001463046 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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