ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2870dup (p.Asn957fs)

dbSNP: rs397517429
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513550 SCV003317108 pathogenic not provided 2022-07-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 46309). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn957Lysfs*10) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039565 SCV000063254 pathogenic Rare genetic deafness 2013-02-05 no assertion criteria provided clinical testing The Asn957LysfsX10 variant in GPR98 has not been reported in the literature nor previously identified by our laboratory. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 957 and lead to a premature termination codon 10 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss-of-function of GPR98 g ene is an established disease mechanism in Usher syndrome. Therefore, this gene meets our criteria to be classified as pathogenic.

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