ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8737del (p.Val2913fs) (rs397517441)

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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 RCV000039655 SCV000063344 pathogenic Rare genetic deafness 2011-03-14 criteria provided, single submitter clinical testing The Val2913fs variant in GPR98 has not been reported in the literature nor previ ously identified by our laboratory. The Val2913fs variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 2913 and leads to a premature stop codon 4 codons downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this varia nt meets our criteria to be classified as pathogenic.

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