ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1183A>G (p.Met395Val)

dbSNP: rs199854093
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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 RCV001214268 SCV001385943 uncertain significance Nemaline myopathy 8 2019-07-05 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KLHL40-related conditions. This sequence change replaces methionine with valine at codon 395 of the KLHL40 protein (p.Met395Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine.

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