ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1897del (p.Glu633fs)

dbSNP: rs1834703886
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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 RCV001233987 SCV001406610 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2019-09-26 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DCLRE1C gene (p.Glu633Lysfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acids of the DCLRE1C protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DCLRE1C-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, 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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