ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.1484_1488del (p.Thr495fs) (rs397509400)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000722038 SCV000853215 pathogenic Pre-B-cell acute lymphoblastic leukemia 2018-07-26 criteria provided, single submitter clinical testing This is a frameshift alteration in which coding nucleotides 1484 through 1488 are deleted. This is predicted to change a Threonine to an Asparagine at codon 495, as well as shift the reading frame and result in a premature stop codon 6 amino acids downstream. Classification criteria: PVS1, PS3, PM2, PP1.
OMIM RCV000049244 SCV000077497 pathogenic Fanconi anemia, complementation group Q 2013-05-02 no assertion criteria provided literature only
Leiden Open Variation Database RCV000049244 SCV001364565 pathogenic Fanconi anemia, complementation group Q 2014-10-03 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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