ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7705G>A (p.Val2569Ile)

gnomAD frequency: 0.00001  dbSNP: rs763494037
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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 RCV001295911 SCV001484862 likely benign not provided 2024-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738231 SCV005358787 uncertain significance ADGRV1-related disorder 2024-09-10 no assertion criteria provided clinical testing The ADGRV1 c.7705G>A variant is predicted to result in the amino acid substitution p.Val2569Ile. This variant was reported, along with c.12082G>A, in an individual with early infantile epileptic encephalopathy; segregation analysis was not performed (supplementary data, Sun et al. 2021. PubMed ID: 34055682). This variant is reported in 0.028% of alleles in individuals of East Asian 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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