ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn)

gnomAD frequency: 0.13432  dbSNP: rs3820700
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423904 SCV000524321 benign not specified 2016-09-23 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000423904 SCV000711874 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ser2574Asn in exon 10 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 21.64% (1866/8622) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs3820700).
Labcorp Genetics (formerly Invitae), Labcorp RCV000860049 SCV000999964 benign Alstrom syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000860049 SCV001769060 benign Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402152 SCV002674531 benign Cardiovascular phenotype 2018-12-21 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 RCV004708869 SCV005242467 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000860049 SCV001463063 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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