ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)

gnomAD frequency: 0.00002  dbSNP: rs1432325198
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002484061 SCV002781887 likely pathogenic Fanconi anemia complementation group I 2022-04-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV002484061 SCV004197232 likely pathogenic Fanconi anemia complementation group I 2022-09-27 criteria provided, single submitter clinical testing
Invitae RCV003523081 SCV004337406 pathogenic Fanconi anemia 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg602*) 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 (no rsID available, gnomAD 0.01%). 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: 929725). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001194996 SCV001364873 likely pathogenic Gastric cancer 2018-10-01 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Marjolijn JL Ligtenberg.

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