ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2996C>A (p.Pro999His)

gnomAD frequency: 0.00001  dbSNP: rs780572571
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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 RCV001352301 SCV001546847 uncertain significance Dyskeratosis congenita 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 999 of the CTC1 protein (p.Pro999His). This variant is present in population databases (no rsID available, gnomAD no frequency). This missense change has been observed in individual(s) with neutropenia (PMID: 34573280). ClinVar contains an entry for this variant (Variation ID: 973633). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
New York Genome Center RCV001267754 SCV002097832 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2021-02-05 criteria provided, single submitter clinical testing
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267754 SCV001424070 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2020-05-21 no assertion criteria provided clinical testing

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