Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643966 | SCV000765653 | pathogenic | Charcot-Marie-Tooth disease type 4A | 2023-05-04 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 535790). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-tooth (CMT) disease (PMID: 17433678, 18504680, 23466821). It has also been observed to segregate with disease in related individuals. This sequence change creates a premature translational stop signal (p.Arg191*) 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). |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV000643966 | SCV004100380 | likely pathogenic | Charcot-Marie-Tooth disease type 4A | criteria provided, single submitter | clinical testing | The stop gained p.R191* in GDAP1 (NM_018972.4) has been reported to ClinVar as Pathogenic (Auer-Grumbach M et al, 2008; Baránková L et al, 2007). The p.R191* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss-of-function variants in GDAP1 are known to be pathogenic (Cuesta A et al, 2002; Crimella C et al, 2010). For these reasons, this variant has been classified as Likely Pathogenic. | |
Inherited Neuropathy Consortium | RCV000790267 | SCV000929668 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
Inherited Neuropathy Consortium Ii, |
RCV000643966 | SCV004174593 | uncertain significance | Charcot-Marie-Tooth disease type 4A | 2016-01-06 | no assertion criteria provided | literature only |