ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3173T>G (p.Leu1058Arg)

gnomAD frequency: 0.00002  dbSNP: rs146536910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551158 SCV000631342 uncertain significance Dyskeratosis congenita 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1058 of the CTC1 protein (p.Leu1058Arg). This variant is present in population databases (rs146536910, gnomAD 0.1%). 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: 459600). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Ambry Genetics RCV003159772 SCV003891958 uncertain significance Inborn genetic diseases 2023-01-31 criteria provided, single submitter clinical testing The c.3173T>G (p.L1058R) alteration is located in exon 20 (coding exon 20) of the CTC1 gene. This alteration results from a T to G substitution at nucleotide position 3173, causing the leucine (L) at amino acid position 1058 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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