Submissions for variant NM_000123.4(ERCC5):c.1641C>T (p.Asn547=)

gnomAD frequency: 0.00029  dbSNP: rs200615101

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000317912	SCV000382104	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000918496	SCV001063808	likely benign	not provided	2023-08-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000918496	SCV001961416	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ERCC5: BP4, BP7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000918496	SCV002010230	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002258871	SCV002532662	likely benign	Hereditary cancer-predisposing syndrome	2021-12-28	criteria provided, single submitter	curation