Submissions for variant NM_001033855.3(DCLRE1C):c.1379AAG[2] (p.Glu462del)

dbSNP: rs373709012

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000493151	SCV000582839	uncertain significance	not provided	2017-05-17	criteria provided, single submitter	clinical testing	The c.1385_1387delAAG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 26/8652 (0.301%) alleles from individuals of East Asian background in the ExAC dataset (Lek et al., 2016). The variant results in the in-frame deletion of Glutamic acid 462, a residue which is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae	RCV001085101	SCV000766518	likely benign	Severe combined immunodeficiency due to DCLRE1C deficiency	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962361	SCV004781783	likely benign	DCLRE1C-related disorder	2023-07-10	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).