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
Inherited Neuropathy Consortium	RCV000790267	SCV000929668	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only
Invitae	RCV000643966	SCV000765653	pathogenic	Charcot-Marie-Tooth disease, type 4A	2018-03-20	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.

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