ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15769A>G (p.Ile5257Val)

dbSNP: rs184829061
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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 RCV001360898 SCV001556854 likely benign not provided 2024-08-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004770097 SCV005381281 uncertain significance not specified 2024-08-07 criteria provided, single submitter clinical testing Variant summary: ADGRV1 c.15769A>G (p.Ile5257Val) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 248634 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.15769A>G in individuals affected with ADGRV1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1052673). Based on the evidence outlined above, the variant was classified as uncertain significance.

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