Submissions for variant NM_000123.4(ERCC5):c.1131T>A (p.Ala377=)

gnomAD frequency: 0.00001  dbSNP: rs764744058

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000407191	SCV000382097	uncertain significance	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, 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	RCV002520849	SCV003490817	likely benign	not provided	2022-08-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002520849	SCV004135141	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	ERCC5: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003977918	SCV004795031	likely benign	BIVM-ERCC5-related condition	2019-02-26	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).