Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000814937 | SCV000955375 | pathogenic | Charcot-Marie-Tooth disease type 4A | 2022-07-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 637504). This premature translational stop signal has been observed in individual(s) with Charcot–Marie–Tooth disease (PMID: 25614874). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Lys39Argfs*5) in the GDAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GDAP1 are known to be pathogenic (PMID: 11743580). |
Inherited Neuropathy Consortium | RCV000789711 | SCV000929087 | pathogenic | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
Inherited Neuropathy Consortium Ii, |
RCV003447240 | SCV004174587 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2K | 2016-01-06 | no assertion criteria provided | literature only |