ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.837C>T (p.Phe279=)

gnomAD frequency: 0.00013  dbSNP: rs376724853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530695 SCV000637066 likely benign Brugada syndrome 2024-11-17 criteria provided, single submitter clinical testing
GeneDx RCV001796103 SCV002032390 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26582918)
Ambry Genetics RCV002438345 SCV002677883 likely benign Cardiovascular phenotype 2020-02-21 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.

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