ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.517T>C (p.Tyr173His)

dbSNP: rs2151291390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001912360 SCV002159501 uncertain significance Fanconi anemia 2021-09-15 criteria provided, single submitter clinical testing 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. 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 histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with FANCI-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with histidine at codon 173 of the FANCI protein (p.Tyr173His). The tyrosine residue is weakly conserved and there is a moderate physicochemical difference between tyrosine and histidine.
Fulgent Genetics, Fulgent Genetics RCV002506977 SCV002817062 uncertain significance Fanconi anemia complementation group I 2021-10-18 criteria provided, single submitter clinical testing

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