ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6730G>A (p.Val2244Ile)

gnomAD frequency: 0.00003  dbSNP: rs759954556
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375346 SCV001572064 uncertain significance Usher syndrome 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP5_Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV001865878 SCV002230437 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2244 of the ADGRV1 protein (p.Val2244Ile). This variant is present in population databases (rs759954556, gnomAD 0.003%). 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: 1065037). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002493909 SCV002796357 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2022-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037620 SCV004862928 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.6730G>A (p.V2244I) alteration is located in exon 31 (coding exon 31) of the ADGRV1 gene. This alteration results from a G to A substitution at nucleotide position 6730, causing the valine (V) at amino acid position 2244 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815497 SCV005070362 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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