Submissions for variant NM_005236.3(ERCC4):c.1284G>A (p.Ala428=)

gnomAD frequency: 0.00007  dbSNP: rs3136151

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000321953	SCV000394869	uncertain significance	Xeroderma pigmentosum, group F	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	RCV000529282	SCV000654056	likely benign	Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820939	SCV002071820	likely benign	not specified	2021-08-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003422265	SCV004141169	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	ERCC4: BP4, BP7