ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2839dup (p.Ser947fs) (rs756367276)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168438 SCV000219135 pathogenic Fanconi anemia 2018-12-04 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 29 of the FANCA mRNA (c.2839dupT), causing a frameshift at codon 947. This creates a premature translational stop signal (p.Ser947Phefs*4) and is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in FANCA are known to be pathogenic (PMID: 15643609, 24584348). For these reasons, this sequence change has been classified as Pathogenic.
Department of Hematology,University of Health Sciences RCV000239378 SCV000239241 likely pathogenic Fanconi anemia, complementation group A 2014-12-01 no assertion criteria provided research

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