ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu) (rs200179979)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039644 SCV000063333 likely benign not specified 2017-01-19 criteria provided, single submitter clinical testing p.Pro2799Leu in exon 37 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across mammals and computational anal yses do not suggest a high likelihood of impact to the protein. It has been id entified in 21/66654 of European chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs200179979).
Invitae RCV001362654 SCV001558684 uncertain significance not provided 2020-03-26 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 2799 of the ADGRV1 protein (p.Pro2799Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs200179979, ExAC 0.03%). This variant has not been reported in the literature in individuals with ADGRV1-related disease. ClinVar contains an entry for this variant (Variation ID: 46388). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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