ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) (rs1554547986)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643966 SCV000765653 pathogenic Charcot-Marie-Tooth disease, type 4A 2019-05-24 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the compound heterozygous state with a second pathogenic GDAP1 variant (p.Leu239Phe) in several individuals affected with Charcot-Marie-tooth (CMT) disease (PMID: 18504680, 17433678). In one family, both the p.Arg191* and p.Leu239Phe variants have been reported to segregate with disease (PMID: 18504680). It has also been reported as a single heterozygous variant in several individuals affected with CMT (PMID: 17433678, 23466821), as well as in unaffected family members (PMID: 18504680, 23466821). Loss-of-function variants in GDAP1 are known to be pathogenic (PMID: 11743580, 20685671). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000790267 SCV000929668 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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