ClinVar Miner

Submissions for variant NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg)

gnomAD frequency: 0.00001  dbSNP: rs748342283
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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 RCV001312964 SCV001503439 uncertain significance Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 2021-09-01 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the DCLRE1B mRNA. It is expected to extend the length of the DCLRE1B protein by 7 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DCLRE1B-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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