ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1294G>T (p.Val432Phe)

dbSNP: rs759601864
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528387 SCV000654237 uncertain significance Nemaline myopathy 8 2017-01-23 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a KLHL40-related disease. This sequence change replaces valine with phenylalanine at codon 432 of the KLHL40 protein (p.Val432Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine.

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