ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)

gnomAD frequency: 0.00003  dbSNP: rs397515743
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035093 SCV000058733 likely benign not specified 2010-07-15 criteria provided, single submitter clinical testing
Invitae RCV001492088 SCV001696693 likely benign 3-Methylglutaconic aciduria type 2 2023-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298042 SCV003994194 likely benign Cardiovascular phenotype 2023-04-14 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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