Submissions for variant NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)

dbSNP: rs104894079

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000798174	SCV000937775	pathogenic	Charcot-Marie-Tooth disease type 4A	2018-12-13	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect GDAP1 protein function via a dominant-negative or gain-of-function mechanism (PMID: 19782751, 23628762, 21890626, 18021315, 28220846). This variant has been observed to be de novo in an individual affected with Charcot-Marie-Tooth disease (PMID: 15805163), which is consistent with an autosomal dominant pattern of inheritance. ClinVar contains an entry for this variant (Variation ID: 4199). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with proline at codon 157 of the GDAP1 protein (p.Thr157Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline.
OMIM	RCV000004419	SCV000024592	pathogenic	Charcot-Marie-Tooth disease axonal type 2K	2005-04-01	no assertion criteria provided	literature only
GeneReviews	RCV001533514	SCV001750196	not provided	Charcot-Marie-Tooth disease		no assertion provided	literature only
Inherited Neuropathy Consortium Ii, University Of Miami	RCV000798174	SCV004174628	uncertain significance	Charcot-Marie-Tooth disease type 4A	2016-01-06	no assertion criteria provided	literature only