ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.362C>T (p.Pro121Leu)

gnomAD frequency: 0.00005  dbSNP: rs200730114
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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 RCV001320253 SCV001511033 uncertain significance not provided 2022-07-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 121 of the ADGRV1 protein (p.Pro121Leu). This variant is present in population databases (rs200730114, gnomAD 0.005%). 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: 1020641). 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.
Fulgent Genetics, Fulgent Genetics RCV002493676 SCV002800946 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2021-11-09 criteria provided, single submitter clinical testing

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