ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) (rs104894079)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798174 SCV000937775 pathogenic Charcot-Marie-Tooth disease, type 4A 2018-12-14 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). 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 has been reported to affect GDAP1 protein function via a dominant-negative or gain-of-function mechanism (PMID: 19782751, 23628762, 21890626, 18021315, 28220846). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004419 SCV000024592 pathogenic Charcot-Marie-Tooth disease type 2K 2005-04-01 no assertion criteria provided literature only

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