ClinVar Miner

Submissions for variant NC_000005.10:g.90706284C>T

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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 RCV000825556 SCV000966874 pathogenic Rare genetic deafness 2018-08-10 criteria provided, single submitter clinical testing The p.Gln2874X variant in ADGRV1 has been identified by our laboratory in one ho mozygous individual with congenital moderately-severe sensorineural hearing loss . This variant was confirmed to be heterozygous in the unaffected parents and ho mozygous in an affected sibling. This variant was absent from large population s tudies. This nonsense variant leads to a premature termination codon at position 2874, which is predicted to lead to a truncated or absent protein. Loss of func tion of the ADGRV1 gene is an established disease mechanism in individuals with Usher syndrome. In summary, the p.Gln2874X variant is pathogenic for autosomal r ecessive Usher syndrome. ACMG/AMP Criteria applied: PVS1, PM2, PP1.

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