ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13600A>G (p.Met4534Val)

gnomAD frequency: 0.00006  dbSNP: rs761667882
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Total submissions: 3
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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 RCV000609366 SCV000712824 uncertain significance not specified 2017-01-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Met4534Val va riant in GPR98 has not been previously reported in individuals with hearing loss , but has been identified in 1/8888 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs761667882). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conserv ation analysis suggest that the p.Met4534Val variant may not impact the protein. Of note, the methionine (Met) at position 4534 is not conserved through species , with 1 mammal (goat) having a valine (Val). In summary, while the clinical sig nificance of the p.Met4534Val variant is uncertain, its presence in other specie s suggests that it is more likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV003767453 SCV004615964 benign not provided 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619351 SCV005117023 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.13600A>G (p.M4534V) alteration is located in exon 67 (coding exon 67) of the ADGRV1 gene. This alteration results from a A to G substitution at nucleotide position 13600, causing the methionine (M) at amino acid position 4534 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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