ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=)

gnomAD frequency: 0.00006  dbSNP: rs368659119
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719064 SCV000728361 likely benign not provided 2019-12-03 criteria provided, single submitter clinical testing
Counsyl RCV000669648 SCV000794424 likely benign Alstrom syndrome 2017-09-26 criteria provided, single submitter clinical testing
Invitae RCV000669648 SCV002374551 likely benign Alstrom syndrome 2023-07-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000669648 SCV002809488 likely benign Alstrom syndrome 2021-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162747 SCV003857289 likely benign Cardiovascular phenotype 2023-01-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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