ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7829T>C (p.Ile2610Thr)

gnomAD frequency: 0.00001  dbSNP: rs752592613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596827 SCV000704583 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV000596827 SCV001402031 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 2610 of the ADGRV1 protein (p.Ile2610Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs752592613, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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