ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)

gnomAD frequency: 0.00027  dbSNP: rs145315496
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000120818 SCV000594578 uncertain significance not specified 2017-04-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728799 SCV000856414 uncertain significance not provided 2017-08-14 criteria provided, single submitter clinical testing
Invitae RCV001209805 SCV001381255 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-07-17 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001543122 SCV001761639 uncertain significance Xeroderma pigmentosum, group F; Fanconi anemia complementation group Q 2021-06-24 criteria provided, single submitter clinical testing The ERCC4 c.211T>C (p.Tyr71His) missense change has a maximum subpopulation frequency of 0.084% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/16-14015891-T-C?dataset=gnomad_r2_1). In silico tools are not in agreement about the effect of this variant on protein function, but to our knowledge these predictions have not been confirmed by functional assays. This variant has been reported in an individual with a pediatric diffuse intrinsic pontine glioma (PMID: 26580448). To our knowledge, this variant has not been reported in individuals with Fanconi anemia or Xeroderma pigmentosum. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: no criteria met.
ITMI RCV000120818 SCV000084983 not provided not specified 2013-09-19 no assertion provided reference population

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