ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=)

gnomAD frequency: 0.00007  dbSNP: rs371108940
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664712 SCV000788716 likely benign Alstrom syndrome 2017-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000664712 SCV001706492 likely benign Alstrom syndrome 2024-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369790 SCV002686739 likely benign Cardiovascular phenotype 2019-05-19 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.
GeneDx RCV003128684 SCV003805338 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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