ClinVar Miner

Submissions for variant NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs)

dbSNP: rs779442399
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640947 SCV000762552 uncertain significance Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 2017-12-27 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with DCLRE1B-related disease. This variant is present in population databases (rs779442399, ExAC 0.002%). This sequence change results in a premature translational stop signal in the DCLRE1B gene (p.Ser486Lysfs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acids of the DCLRE1B protein.

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