ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1053C>A (p.His351Gln)

dbSNP: rs61736693
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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 RCV000696165 SCV000824714 uncertain significance Nemaline myopathy 8 2018-05-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with glutamine at codon 351 of the KLHL40 protein (p.His351Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This variant has not been reported in the literature in individuals with KLHL40-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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