Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Concord Molecular Medicine Laboratory, |
RCV003387929 | SCV004099296 | likely pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1 | 2023-10-29 | criteria provided, single submitter | clinical testing | The c.592T>G missense substitution predicts an amino acid change from serine to alanine in position 198 in the GJB1 protein, p.(Ser198Ala). It segregates with the disease in the patient’s parents and has been reported in another family with CMT (PMID: 19259128). Another missense variant at the same protein position has been reported as pathogenic (PMID: 9361298). In silico analysis suggests this variant to be damaging (REVEL: 0.8). It is absent in control population (gnomAD).The current evidence allows a classification of the variant as “likely pathogenic” (ACMG criteria: PP1_moderate, PM5, PP3_moderate, PM2_supporting, PM3_supporting). |
Inherited Neuropathy Consortium | RCV000789909 | SCV000929294 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |