ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=)

gnomAD frequency: 0.00017  dbSNP: rs370844317
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471195 SCV000554298 likely benign Alstrom syndrome 2024-01-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605939 SCV000731919 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing p.Ser3246Ser in exon 11 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.03% (38/126628 ) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gno mad.broadinstitute.org; dbSNP rs370844317). ACMG/AMP criteria applied: BP7.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000605939 SCV001572447 likely benign not specified 2021-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383845 SCV002693417 likely benign Cardiovascular phenotype 2019-10-19 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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