ClinVar Miner

Submissions for variant NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp)

gnomAD frequency: 0.00018  dbSNP: rs141081316
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803706 SCV000943589 uncertain significance Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 2022-09-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 648890). 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. 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 C0"). This variant has not been reported in the literature in individuals affected with DCLRE1B-related conditions. This variant is present in population databases (rs141081316, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 395 of the DCLRE1B protein (p.Arg395Trp).

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