ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5643del (p.Tyr1882fs)

dbSNP: rs727503076
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Total submissions: 2
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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 RCV000150761 SCV000198230 pathogenic Rare genetic deafness 2013-08-06 criteria provided, single submitter clinical testing The Tyr1882fs variant in GPR98 has not been reported in individuals with hearing loss or clinical feature of Usher syndrome, and was also not identified in larg e population studies. This frameshift variant is predicted to alter the protein? s amino acid sequence beginning at position 1882 and lead to a premature termina tion codon 6 amino acids downstream. This alteration is then predicted to lead t o a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Labcorp Genetics (formerly Invitae), Labcorp RCV001068872 SCV001234005 pathogenic not provided 2022-11-01 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: 163578). 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.Tyr1882Ilefs*6) 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).

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