ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2855_2869delinsTTG (p.Thr952_Phe957delinsIleVal)

dbSNP: rs1555448946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003522117 SCV004268817 uncertain significance Fanconi anemia 2017-12-10 criteria provided, single submitter clinical testing This is a complex sequence change that replaces amino acids 952-957 of the FANCI protein with isoleucine and valine (p.Thr952_Phe957delinsIleVal). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCI-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown.

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