ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530141 SCV000644081 pathogenic Charcot-Marie-Tooth disease, type 4A 2020-10-10 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 observed in individual(s) with clinical features of autosomal recessive Charcot-Marie-Tooth disease (PMID: 14561495, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 467773). Experimental studies have shown that this variant affects GDAP1 protein function (PMID: 23628762). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory,London Health Sciences Centre RCV000789643 SCV001336402 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789643 SCV000929015 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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