Submissions for variant NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)

gnomAD frequency: 0.00094  dbSNP: rs150791877

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000625475	SCV000382096	uncertain significance	Xeroderma pigmentosum, group G	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625475	SCV000745526	likely benign	Xeroderma pigmentosum, group G	2017-06-28	criteria provided, single submitter	clinical testing
Invitae	RCV000861081	SCV001001300	benign	not provided	2023-12-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000861081	SCV001803877	likely benign	not provided	2019-08-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000861081	SCV002497683	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ERCC5: BP4, BP7
Sema4, Sema4	RCV002258870	SCV002532647	likely benign	Hereditary cancer-predisposing syndrome	2020-12-21	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003940190	SCV004749194	likely benign	BIVM-ERCC5-related condition	2019-06-04	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625475	SCV000745988	likely benign	Xeroderma pigmentosum, group G	2016-04-29	no assertion criteria provided	clinical testing