ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3406G>A (p.Glu1136Lys)

gnomAD frequency: 0.00001  dbSNP: rs761553012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001968749 SCV002255148 uncertain significance Dyskeratosis congenita 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1136 of the CTC1 protein (p.Glu1136Lys). This variant is present in population databases (rs761553012, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of CTC1-related conditions (PMID: 30891747). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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 RCV001968749 SCV002531303 uncertain significance Dyskeratosis congenita 2022-02-09 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002484847 SCV002780052 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2021-10-12 criteria provided, single submitter clinical testing

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