ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5471G>A (p.Ser1824Asn)

dbSNP: rs1744672796
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229758 SCV001402213 uncertain significance not provided 2019-09-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ADGRV1-related conditions. 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 1824 of the ADGRV1 protein (p.Ser1824Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine.

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