ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) (rs727503066)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150729 SCV000198154 likely pathogenic Rare genetic deafness 2016-11-30 criteria provided, single submitter clinical testing The p.Arg127Cys variant in GJB2 has been reported in 6 individuals with hearing loss, including three who were compound heterozygous with another pathogenic GJB 2 variant (Tang 2006, Dahl 2001, Mikstiene 2016, LMM data). This variant has not been identified in large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, although additional studies are required to fully esta blish its clinical significance, this variant is likely pathogenic for autosomal recessive hearing loss based on multiple reported affected compound heterozygot es and a significantly higher frequency in affected individuals than in the gene ral population.
Fulgent Genetics,Fulgent Genetics RCV000762903 SCV000893313 pathogenic Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 2018-10-31 criteria provided, single submitter clinical testing

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