ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)

dbSNP: rs1555937259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 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

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