ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.414_415TG[1] (p.Val139fs) (rs864622188)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205897 SCV000259617 pathogenic Fanconi anemia 2015-07-28 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotide from exon 4 of the FANCA mRNA (c.416_417delTG), causing a frameshift at codon 139. This creates a premature translational stop signal (p.Val139Glyfs*41) and is expected to result in an absent or disrupted protein product. Truncating variants in FANCA are known to be pathogenic. This particular truncation has been reported in a patient with Fanconia Anemia (PMID: 15643609). For these reasons, this variant has been classified as Pathogenic.

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