ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=)

gnomAD frequency: 0.00003  dbSNP: rs546745992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867234 SCV001008437 likely benign Alstrom syndrome 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363238 SCV002665689 likely benign Cardiovascular phenotype 2019-10-11 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Natera, Inc. RCV000867234 SCV001463716 likely benign Alstrom syndrome 2020-04-23 no assertion criteria provided clinical testing

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