Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587675 | SCV000698243 | uncertain significance | not provided | 2017-06-06 | criteria provided, single submitter | clinical testing | Variant summary: The GJB2 c.308_310delAGA (p.Lys103del) variant involves the deletion of 3 nucleotides, leading to an in-frame deletion of a lysine residue in the connexin, N-terminal domain (InterPro). One in silico tool predicts a damaging outcome for this variant. This variant is absent from the large control database ExAC (0/121232 control chromosomes). To our knowledge, the variant of interest has not been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Due to the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |