ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) (rs587778281)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482017 SCV000566524 pathogenic not provided 2017-02-10 criteria provided, single submitter clinical testing The c.1421dupA duplication in the ERCC3 gene, denoted as c.1421_1422insA due to alternativenomenclature, has been reported previously in a compound heterozygous individual with features consistentwith xeroderma pigmentosum/Cockayne syndrome complex (Oh et al., 2006). The c.1421dupA duplication causes a frameshift starting with codon Aspartic acid 474, changes this amino acid to a Glutamic acidresidue and creates a premature Stop codon at position 2 of the new reading frame, denotedp.Asp474GlufsX2. This variant is predicted to cause loss of normal protein function either through proteintruncation or nonsense-mediated mRNA decay. The c.1421dupA variant was not observed at anysignificant frequency in approximately 6.200 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in this population. Weinterpret c.1421dupA as a pathogenic variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000482017 SCV001245707 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000018055 SCV001369260 pathogenic Xeroderma pigmentosum, complementation group b 2019-10-08 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5.
OMIM RCV000018055 SCV000038334 pathogenic Xeroderma pigmentosum, complementation group b 2006-11-01 no assertion criteria provided literature only
ITMI RCV000120802 SCV000084966 not provided not specified 2013-09-19 no assertion provided reference population

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