Submissions for variant NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr)

gnomAD frequency: 0.00064  dbSNP: rs144208043

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000277492	SCV000382126	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.
CeGaT Center for Human Genetics Tuebingen	RCV000995083	SCV001149078	uncertain significance	not provided	2017-10-01	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000995083	SCV002010640	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256058	SCV002532691	uncertain significance	Hereditary cancer-predisposing syndrome	2021-09-18	criteria provided, single submitter	curation
ITMI	RCV000120844	SCV000085009	not provided	not specified	2013-09-19	no assertion provided	reference population