ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2870dup (p.Asn957fs) (rs397517429)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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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