ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr)

gnomAD frequency: 0.00066  dbSNP: rs185586839
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231998 SCV000290083 likely benign Alstrom syndrome 2024-01-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734011 SCV000862120 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000734011 SCV001812466 likely benign not provided 2020-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450702 SCV002612143 likely benign Cardiovascular phenotype 2021-10-11 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. RCV000231998 SCV002080478 likely benign Alstrom syndrome 2020-08-12 no assertion criteria provided clinical testing

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