ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3662del (p.Lys1221fs)

dbSNP: rs1567179036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000705229 SCV000834217 pathogenic Fanconi anemia 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1221Argfs*3) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 581414). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003460983 SCV004197191 likely pathogenic Fanconi anemia complementation group I 2024-03-20 criteria provided, single submitter clinical testing

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