ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)

dbSNP: rs551305056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382026 SCV001580621 pathogenic Fanconi anemia 2020-04-18 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FANCI gene (p.Arg1299*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acids of the FANCI protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal recessive Fanconi anemia (PMID: 17452773, 17460694). This variant has been reported to affect FANCI protein function (PMID: 20971953). This variant disrupts the C-terminus of the FANCI protein. Other variant(s) that disrupt this region (p.Asp1301Glyfs*3) have been observed in individuals with FANCI-related conditions (PMID: 17460694). This suggests that this may be a clinically significant region of the protein. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001194987 SCV002801773 likely pathogenic Fanconi anemia complementation group I 2022-03-02 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194987 SCV001364863 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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