Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037850 | SCV000061512 | likely benign | not specified | 2011-01-18 | criteria provided, single submitter | clinical testing | Ser138Gly in exon 2 of GJB2: This variant has been reported in the literature af ter identification in one patient with hearing loss; however, a variant on the s econd allele was not found (Picciotti 2009). Computational analyses (PolyPhen, S IFT, AlignGVGD) do not suggest a high likelihood of clinical significance primar ily based upon a lack of evolutionary conservation. Of note, cow and sheep have a glycine at this position despite high nearby amino acid conservation. In summa ry this data suggests that this variant is likely benign. |
Mendelics | RCV000988960 | SCV001138909 | benign | Autosomal recessive nonsyndromic hearing loss 1A | 2019-05-28 | criteria provided, single submitter | clinical testing |