Submissions for variant NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg)

gnomAD frequency: 0.02531  dbSNP: rs4150313

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000625472	SCV000382093	benign	Xeroderma pigmentosum, group G	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625472	SCV000745523	likely benign	Xeroderma pigmentosum, group G	2015-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001682832	SCV001901297	benign	not provided	2019-04-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001682832	SCV002382884	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001682832	SCV005218235	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000120855	SCV000085022	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625472	SCV000745985	benign	Xeroderma pigmentosum, group G	2015-07-08	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915203	SCV004741738	benign	ERCC5-related disorder	2019-09-25	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).