ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13579A>G (p.Ile4527Val) (rs777190245)

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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 RCV000825107 SCV000966361 likely benign not specified 2018-05-18 criteria provided, single submitter clinical testing p.Ile4527Val in exon 67 of ADGRV1: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, more than 10 mammals have a Valine (Val) at this position despite high n earby amino acid conservation. In addition, computational prediction tools do no t suggest a high likelihood of impact to the protein. ACMG/AMP criteria applied: BP4_Strong.
Invitae RCV001307219 SCV001496623 uncertain significance not provided 2020-03-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 4527 of the ADGRV1 protein (p.Ile4527Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs777190245, ExAC 0.007%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 666650). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The valine 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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