ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.345G>A (p.Ala115=)

dbSNP: rs149167213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460752 SCV000561192 likely benign Brugada syndrome 2024-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002455886 SCV002613021 likely benign Cardiovascular phenotype 2018-05-15 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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