Submissions for variant NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001070445	SCV001235676	uncertain significance	Fanconi anemia	2019-12-22	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with proline at codon 912 of the FANCA protein (p.Thr912Pro). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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