Submissions for variant NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)

gnomAD frequency: 0.00085  dbSNP: rs143782439

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000302818	SCV000340563	uncertain significance	not provided	2016-04-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000373590	SCV000361550	uncertain significance	Histiocytic medullary reticulosis	2018-01-13	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.
Invitae	RCV001084672	SCV001012722	likely benign	Severe combined immunodeficiency due to DCLRE1C deficiency	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000302818	SCV004810887	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	DCLRE1C: BP4, BP7
Natera, Inc.	RCV000373590	SCV001455080	likely benign	Histiocytic medullary reticulosis	2020-09-16	no assertion criteria provided	clinical testing