ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter)

gnomAD frequency: 0.00001  dbSNP: rs551399966
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001194997 SCV002023039 pathogenic Fanconi anemia complementation group I 2019-07-19 criteria provided, single submitter clinical testing
Invitae RCV002560182 SCV003482137 pathogenic Fanconi anemia 2023-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg614*) in the FANCI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694). This variant is present in population databases (rs551399966, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 17460694). ClinVar contains an entry for this variant (Variation ID: 929726). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001194997 SCV004197163 pathogenic Fanconi anemia complementation group I 2023-10-02 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194997 SCV001364874 pathogenic Fanconi anemia complementation group I 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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