ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.334_335del (p.Lys112fs) (rs756484720)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169446 SCV000220865 likely pathogenic Deafness, autosomal recessive 1A 2014-11-07 criteria provided, single submitter literature only
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000169446 SCV000599745 pathogenic Deafness, autosomal recessive 1A 2017-05-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517108 SCV000613513 pathogenic not provided 2017-06-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000616234 SCV000710860 pathogenic Rare genetic deafness 2016-06-09 criteria provided, single submitter clinical testing The p.Lys112fs variant in GJB2 has been reported in eight individuals with heari ng loss (Kelley 1998, Wu 2002, Putcha 2007, Nishio 2015). One of these individua ls and their sibling were compound heterozygous for this variant and a second pa thogenic GJB2 variant (Kelley 1998). This variant is predicted to cause a frames hift, which alters the protein?s amino acid sequence beginning at position 112 a nd leads to a premature termination codon 2 amino acids downstream. This alterat ion is then predicted to lead to a truncated or absent protein. Loss of function of the GJB2 gene is an established disease mechanism in autosomal recessive hea ring loss. In summary, this variant meets the criteria to be classified as patho genic for autosomal recessive hearing loss based on its presence in compound het erozygosity with a known pathogenic variant in an affected individual and the pr edicted impact of the variant.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678879 SCV000805072 pathogenic Hearing loss 2013-03-21 no assertion criteria provided clinical testing

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