ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1285G>A (p.Val429Ile)

gnomAD frequency: 0.00001  dbSNP: rs191350236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048353 SCV001212354 uncertain significance Dyskeratosis congenita 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 429 of the CTC1 protein (p.Val429Ile). This variant is present in population databases (rs191350236, gnomAD 0.006%). 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: 845311). 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 not 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.
Sema4, Sema4 RCV001048353 SCV002531248 uncertain significance Dyskeratosis congenita 2021-12-17 criteria provided, single submitter curation
Ambry Genetics RCV002553181 SCV003598819 uncertain significance Inborn genetic diseases 2021-12-16 criteria provided, single submitter clinical testing The c.1285G>A (p.V429I) alteration is located in exon 8 (coding exon 8) of the CTC1 gene. This alteration results from a G to A substitution at nucleotide position 1285, causing the valine (V) at amino acid position 429 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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