ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1363_1383del (p.Ser455_Glu461del)

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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 RCV003611996 SCV004520701 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2023-09-11 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1363_1383del, results in the deletion of 7 amino acid(s) of the DCLRE1C protein (p.Ser455_Glu461del), but otherwise preserves the integrity of the reading frame.

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