ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1701del (p.Leu568fs) (rs876657695)

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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 RCV000221685 SCV000271376 pathogenic Rare genetic deafness 2015-06-24 criteria provided, single submitter clinical testing The p.Leu568fs variant in GPR98 has not been previously reported in individuals with hearing loss and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 568 and leads to a premature termination codon 8 amino aci ds downstream. This alteration is then predicted to lead to a truncated or absen t protein. In summary, this variant meets our criteria to be classified as patho genic for Usher syndrome in an autosomal recessive manner (http://pcpgmwww.partn ers.org/personalizedmedicince/LMM), based on its predicted impact to the protein .

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