ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10229_10231dup (p.Val3410dup)

dbSNP: rs397517418
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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 RCV000039501 SCV000063190 likely pathogenic Rare genetic deafness 2011-03-14 no assertion criteria provided clinical testing The Val3410dup variant in GPR98 has not been reported in the literature nor prev iously identified by our laboratory. This variant is predicted to alter the prot ein?s amino acid sequence by insertion of an additional valine residue which cou ld impact protein function. Identification of this variant in trans (on a separa te copy of the gene) with a pathogenic variant increases the likelihood that the Val3410dup variant is pathogenic. In summary, this variant is likely to be path ogenic.

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