ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu)

gnomAD frequency: 0.00250  dbSNP: rs4150388
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962483 SCV001109568 likely benign not provided 2019-12-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001112635 SCV001270317 benign Xeroderma pigmentosum, group G 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Sema4, Sema4 RCV002256056 SCV002532694 likely benign Hereditary cancer-predisposing syndrome 2020-12-16 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002477313 SCV002795590 likely benign Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3 2021-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000962483 SCV004135157 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing ERCC5: BP4
Breakthrough Genomics, Breakthrough Genomics RCV000962483 SCV005218245 likely benign not provided criteria provided, single submitter not provided
ITMI RCV000120839 SCV000085004 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003905148 SCV004726601 likely benign ERCC5-related disorder 2019-08-13 no assertion criteria provided 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).

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