ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1161_1163del

dbSNP: rs1437681771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315725 SCV001506312 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2021-08-26 criteria provided, single submitter clinical testing This variant, c.1161_1163del, results in the deletion of 1 amino acid(s) of the DCLRE1C protein (p.Glu388del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DCLRE1C-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.
Natera, Inc. RCV001835565 SCV002076286 uncertain significance Athabaskan severe combined immunodeficiency 2020-10-05 no assertion criteria provided clinical testing

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