ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12222C>T (p.Thr4074=)

gnomAD frequency: 0.00006  dbSNP: rs199638718
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539940 SCV000631762 likely benign Alstrom syndrome 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000827029 SCV000968641 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367799 SCV002661192 likely benign Cardiovascular phenotype 2019-09-03 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.
Fulgent Genetics, Fulgent Genetics RCV000539940 SCV002807534 likely benign Alstrom syndrome 2021-08-16 criteria provided, single submitter clinical testing

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