ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5266G>A (p.Glu1756Lys)

gnomAD frequency: 0.00001  dbSNP: rs1027911338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056601 SCV001221051 uncertain significance not provided 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1756 of the ADGRV1 protein (p.Glu1756Lys). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 852060). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ADGRV1 protein function with a negative predictive value of 95%. 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.
Fulgent Genetics, Fulgent Genetics RCV005036358 SCV005666289 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2024-05-17 criteria provided, single submitter clinical testing

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