ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.1642C>A (p.Gln548Lys)

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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 RCV003716403 SCV004503403 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 552 of the CLTC protein (p.Gln552Lys). This variant has not been reported in the literature in individuals affected with CLTC-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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