ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1136_1137delinsAA (p.Ser379Lys)

dbSNP: rs2125844947
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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 RCV001372966 SCV001569662 uncertain significance Nemaline myopathy 8 2022-08-23 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1063156). This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces serine, which is neutral and polar, with lysine, which is basic and polar, at codon 379 of the KLHL40 protein (p.Ser379Lys).

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