Submissions for variant NM_001033855.3(DCLRE1C):c.201GTT[2] (p.Leu70del)

dbSNP: rs753202682

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001063840	SCV001228703	uncertain significance	Severe combined immunodeficiency due to DCLRE1C deficiency	2021-07-14	criteria provided, single submitter	clinical testing	This variant, c.207_209del, results in the deletion of 1 amino acid(s) of the DCLRE1C protein (p.Leu70del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs753202682, ExAC 0.02%). This variant has been observed in individual(s) with combined immunodeficiency whose fibroblasts showed an increased sensitivity to ionizing radiation (PMID: 10416610, 25917813). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on DCLRE1C protein function (PMID: 16540517, 25917813). 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.
CeGaT Center for Human Genetics Tuebingen	RCV001310563	SCV001500418	likely pathogenic	not provided	2021-05-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001833624	SCV002075529	uncertain significance	Athabaskan severe combined immunodeficiency	2020-11-05	no assertion criteria provided	clinical testing