ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=)

gnomAD frequency: 0.00466  dbSNP: rs142611294
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226654 SCV000290107 benign Alstrom syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001535407 SCV000532671 benign not provided 2018-07-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000425601 SCV000864103 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000425601 SCV000967036 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Val2913Val in exon 10 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 1.73% (169/9796) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs142611294).
Ambry Genetics RCV002374374 SCV002685847 benign Cardiovascular phenotype 2018-12-26 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.
Natera, Inc. RCV000226654 SCV002082923 likely benign Alstrom syndrome 2019-12-02 no assertion criteria provided clinical testing

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