ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) (rs1416176817)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690452 SCV000818137 uncertain significance Charcot-Marie-Tooth disease, type 4A 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 326 of the GDAP1 protein (p.Val326Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GDAP1-related disease. ClinVar contains an entry for this variant (Variation ID: 569746). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Athena Diagnostics Inc RCV000711792 SCV000842189 uncertain significance not provided 2018-07-30 criteria provided, single submitter clinical testing

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