ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg)

gnomAD frequency: 0.00001  dbSNP: rs370788135
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508068 SCV001713974 uncertain significance not provided 2020-12-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821802 SCV002067257 uncertain significance not specified 2019-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001882550 SCV002274559 uncertain significance Dyskeratosis congenita 2024-12-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 451 of the DKC1 protein (p.Ser451Arg). This variant is present in population databases (rs370788135, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with DKC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1163206). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DKC1 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV005040299 SCV005683139 uncertain significance Dyskeratosis congenita, X-linked; Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 2024-05-15 criteria provided, single submitter clinical testing

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