ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.228C>G (p.Ala76=)

gnomAD frequency: 0.00002  dbSNP: rs755847221
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001428152 SCV001630845 likely benign Alstrom syndrome 2025-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456703 SCV002735684 likely benign Cardiovascular phenotype 2019-09-19 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.
Clinical Genetics, Academic Medical Center RCV001699788 SCV001921749 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727852 SCV001969755 likely benign not provided no assertion criteria provided clinical testing

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