ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3674A>G (p.Tyr1225Cys)

gnomAD frequency: 0.00001  dbSNP: rs1351957141
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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 RCV000818806 SCV000959439 uncertain significance Fanconi anemia 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1225 of the FANCI protein (p.Tyr1225Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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