ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002575238 SCV002935753 uncertain significance not provided 2023-04-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 586 of the CLTC protein (p.Thr586Met). This variant is present in population databases (rs760880148, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CLTC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1898989). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CLTC protein function. 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.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV003336769 SCV004045905 likely pathogenic Intellectual disability, autosomal dominant 56 2023-01-26 criteria provided, single submitter clinical testing

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