ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7374_7375del (p.Glu2459fs)

dbSNP: rs397517435
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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, Mass General Brigham Personalized Medicine RCV000039626 SCV000063315 pathogenic Rare genetic deafness 2012-04-24 criteria provided, single submitter clinical testing The Glu2459GlyfsX35 variant in GPR98 has not been reported in the literature nor previously identified by our laboratory. This frameshift variant is predicted t o alter the protein?s amino acid sequence beginning at position 2459 and lead to a premature termination codon 35 amino acids downstream. This alteration is the n predicted to lead to a truncated or absent protein. In summary, this variant m eets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM) .

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