ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.562G>A (p.Val188Met)

gnomAD frequency: 0.00005  dbSNP: rs769331687
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065606 SCV001230572 uncertain significance Dyskeratosis congenita 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 188 of the CTC1 protein (p.Val188Met). This variant is present in population databases (rs769331687, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CTC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 859483). 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 CTC1 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.

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