ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17662del (p.Ser5888fs) (rs397517426)

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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 RCV000039548 SCV000063237 pathogenic Rare genetic deafness 2010-12-17 criteria provided, single submitter clinical testing The Ser5888fs variant in GPR98 has not been reported in the literature nor previ ously identified by our laboratory. The Ser5888fs variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 5888 and leads to a premature stop codon 54 codons downstream. This alteration i s then predicted to lead to a truncated or absent protein. In summary, this vari ant meets our criteria to be classified as pathogenic.

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