ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.16999A>T (p.Met5667Leu)

dbSNP: rs201767389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300062 SCV001489186 likely benign not provided 2024-06-24 criteria provided, single submitter clinical testing
GeneDx RCV001300062 SCV002027909 uncertain significance not provided 2021-11-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699288 SCV005202907 uncertain significance not specified 2024-07-23 criteria provided, single submitter clinical testing Variant summary: ADGRV1 c.16999A>T (p.Met5667Leu) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.9e-05 in 155220 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.16999A>T 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: 1003501). Based on the evidence outlined above, the variant was classified as uncertain significance.

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