ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu) (rs201747452)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215353 SCV000270229 likely benign not specified 2015-02-02 criteria provided, single submitter clinical testing p.Pro4811Leu in exon 70 of GPR98: This variant is not expected to have clinical significance because proline (Pro) residue at position 4811 is not conserved thr ough species, with 3 mammals (squirrel, cat and shrew) and more than 10 birds & reptiles species having a leucine (Leu) at this position. This variant has been reported in 4/44888 European chromosomes by the Exome Aggregation Consortium (Ex AC,
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726146 SCV000342388 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV000726146 SCV001546282 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 4811 of the ADGRV1 protein (p.Pro4811Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs201747452, ExAC 0.02%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 227394). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0. The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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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