ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) (rs775622226)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530141 SCV000644081 uncertain significance Charcot-Marie-Tooth disease, type 4A 2017-12-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 271 of the GDAP1 protein (p.Gly271Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs775622226, ExAC 0.02%). This variant has been reported in the compound heterozygous state in an individual affected with autosomal recessive Charcot-Marie-Tooth disease (PMID: 14561495). Experimental studies have shown that this missense change alters mitochondrial dynamics when overexpressed in vitro (PMID: 23628762). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Inherited Neuropathy Consortium RCV000789643 SCV000929015 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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