ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu)

dbSNP: rs191036195
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000223316 SCV000271820 uncertain significance not specified 2015-02-02 criteria provided, single submitter clinical testing The p.Val2524Glu variant in GPR98 has not been previously reported in individual s with hearing loss, but has been identified in 2/67672 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs191036195). Although this variant has been seen in the general population, it s frequency is not high enough to rule out a pathogenic role. Computational pred iction tools and conservation analyses do not provide strong support for or agai nst an impact to the protein. In summary, the clinical significance of the Val25 24Glu variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV000765843 SCV000897239 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001207709 SCV001379074 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 2524 of the ADGRV1 protein (p.Val2524Glu). This variant is present in population databases (rs191036195, gnomAD 0.006%). 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: 228723). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ADGRV1 protein function. 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 RCV002517555 SCV003544960 uncertain significance Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing The c.7571T>A (p.V2524E) alteration is located in exon 33 (coding exon 33) of the ADGRV1 gene. This alteration results from a T to A substitution at nucleotide position 7571, causing the valine (V) at amino acid position 2524 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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