Submissions for variant NM_000400.4(ERCC2):c.1789C>T (p.Leu597=)

gnomAD frequency: 0.00113  dbSNP: rs138038607

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000914167	SCV001059331	likely benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000914167	SCV001151952	uncertain significance	not provided	2018-04-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001131690	SCV001291321	uncertain significance	Xeroderma pigmentosum, group D	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000914167	SCV001795880	likely benign	not provided	2021-03-16	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256596	SCV002531566	likely benign	Xeroderma pigmentosum	2021-05-14	criteria provided, single submitter	curation
Ambry Genetics	RCV002409169	SCV002716091	likely benign	Inborn genetic diseases	2022-02-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003958355	SCV004767259	likely benign	ERCC2-related condition	2022-11-15	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).