ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.81T>C (p.Asn27=)

gnomAD frequency: 0.00515  dbSNP: rs34278284
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170915 SCV000223473 benign not specified 2014-07-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000234652 SCV000290118 benign Brugada syndrome 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619051 SCV000736199 benign Cardiovascular phenotype 2015-07-27 criteria provided, single submitter clinical testing This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics RCV002478537 SCV002797817 likely benign Brugada syndrome 2 2021-08-11 criteria provided, single submitter clinical testing

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