ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys)

gnomAD frequency: 0.00004  dbSNP: rs751129081
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177887 SCV000229840 uncertain significance not provided 2015-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765846 SCV000897242 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177887 SCV002118710 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 2790 of the ADGRV1 protein (p.Tyr2790Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 196987). 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.
Ambry Genetics RCV004975311 SCV005562863 uncertain significance Inborn genetic diseases 2024-06-26 criteria provided, single submitter clinical testing The c.8369A>G (p.Y2790C) alteration is located in exon 36 (coding exon 36) of the ADGRV1 gene. This alteration results from a A to G substitution at nucleotide position 8369, causing the tyrosine (Y) at amino acid position 2790 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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