ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His)

dbSNP: rs542081391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597338 SCV000709142 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000597338 SCV001510667 likely benign not provided 2024-11-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737877 SCV005351385 uncertain significance ADGRV1-related disorder 2024-08-14 no assertion criteria provided clinical testing The ADGRV1 c.13130C>A variant is predicted to result in the amino acid substitution p.Pro4377His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0030% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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