ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.70G>T (p.Val24Phe)

gnomAD frequency: 0.00001  dbSNP: rs1406620213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203150 SCV001374300 uncertain significance Charcot-Marie-Tooth disease type 4A 2019-06-27 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GDAP1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with phenylalanine at codon 24 of the GDAP1 protein (p.Val24Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine.

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