ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.295G>A (p.Ala99Thr)

dbSNP: rs2125844586
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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 RCV001895309 SCV002156368 uncertain significance Nemaline myopathy 8 2021-09-15 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. This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 99 of the KLHL40 protein (p.Ala99Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.

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