ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.905A>G (p.Asn302Ser) (rs575416245)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228659 SCV000285906 uncertain significance Fanconi anemia 2016-01-17 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 302 of the FANCI protein (p.Asn302Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs575416245, ExAC 0.03%) but has not been reported in the literature in individuals with a FANCI-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. Furthermore, the serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In summary, this is a rare missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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