Submissions for variant NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)

gnomAD frequency: 0.00021  dbSNP: rs144654282

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000316668	SCV000361549	uncertain significance	Histiocytic medullary reticulosis	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000552062	SCV000645219	likely benign	Severe combined immunodeficiency due to DCLRE1C deficiency	2025-01-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001172032	SCV001334961	likely benign	not provided	2020-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000316668	SCV001737222	likely benign	Histiocytic medullary reticulosis	2021-05-18	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000316668	SCV001455079	likely benign	Histiocytic medullary reticulosis	2020-09-16	no assertion criteria provided	clinical testing