ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1902_1903del (p.Ser635fs) (rs760288938)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553998 SCV000645222 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2017-07-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DCLRE1C gene (p.Ser635Phefs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 58 amino acids of the DCLRE1C protein. This variant is present in population databases (rs760288938, ExAC 0.003%). This variant has not been reported in the literature in individuals with DCLRE1C-related disease. 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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