ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.813G>T (p.Arg271=)

gnomAD frequency: 0.00031  dbSNP: rs35464343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230803 SCV000290117 benign Brugada syndrome 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001705278 SCV000520236 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618996 SCV000737447 likely benign Cardiovascular phenotype 2015-09-17 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001801565 SCV002049521 likely benign Brugada syndrome 2 2021-02-04 criteria provided, single submitter clinical testing

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