ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9661G>A (p.Val3221Met)

gnomAD frequency: 0.00006  dbSNP: rs368092861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492811 SCV000583368 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing The V3221M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). V3221M is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Blueprint Genetics RCV001075228 SCV001240842 uncertain significance Retinal dystrophy 2017-03-19 criteria provided, single submitter clinical testing
Invitae RCV000492811 SCV001498905 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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