ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9052T>C (p.Phe3018Leu)

dbSNP: rs769373495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991491 SCV001142943 uncertain significance not provided 2019-05-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000991491 SCV001382018 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3018 of the ADGRV1 protein (p.Phe3018Leu). This variant is present in population databases (rs769373495, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of ADGRV1-related conditions (PMID: 32707200). ClinVar contains an entry for this variant (Variation ID: 804502). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae 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 RCV002479158 SCV002797550 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2021-07-19 criteria provided, single submitter clinical testing

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