ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu) (rs1589064324)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803903 SCV000943791 likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2018-11-30 criteria provided, single submitter clinical testing This variant is a complex sequence change that replaces 2 amino acids of the DCLRE1C protein (p.Thr167_Phe168delinsMetLeu), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual with clinical features of severe combined immunodeficiency (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Experimental studies performed in cells derived from a patient carrying this variant indicates that protein function is disrupted (external communication). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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