ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)

gnomAD frequency: 0.00013  dbSNP: rs200441305
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479594 SCV000573210 uncertain significance not provided 2024-07-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001085744 SCV000756167 likely benign Alstrom syndrome 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383930 SCV002691260 likely benign Cardiovascular phenotype 2023-10-10 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. RCV001085744 SCV001459594 uncertain significance Alstrom syndrome 2020-01-24 no assertion criteria provided clinical testing

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