ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) (rs863224774)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198483 SCV000255034 uncertain significance Charcot-Marie-Tooth disease, type 4A 2018-04-03 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 57 of the GDAP1 protein (p.Ser57Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with CMT in a single family affected with CMT (Invitae database). ClinVar contains an entry for this variant (Variation ID: 216706). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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