Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156107 | SCV000205820 | uncertain significance | not specified | 2013-09-28 | criteria provided, single submitter | clinical testing | The Met157Thr variant in GJB2 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant. |
Genetic Services Laboratory, |
RCV000156107 | SCV000247475 | uncertain significance | not specified | 2015-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002516147 | SCV003573328 | uncertain significance | Inborn genetic diseases | 2021-08-10 | criteria provided, single submitter | clinical testing | The c.470T>C (p.M157T) alteration is located in exon 2 (coding exon 1) of the GJB2 gene. This alteration results from a T to C substitution at nucleotide position 470, causing the methionine (M) at amino acid position 157 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |