Submissions for variant NM_000135.4(FANCA):c.2212C>A (p.Pro738Thr)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001228182	SCV001400568	uncertain significance	Fanconi anemia	2019-11-01	criteria provided, single submitter	clinical testing	This sequence change replaces proline with threonine at codon 738 of the FANCA protein (p.Pro738Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs751015814, ExAC 0.01%). 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: "Deleterious"; 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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