Submissions for variant NM_000135.4(FANCA):c.344G>A (p.Gly115Glu)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001068715	SCV001233842	uncertain significance	Fanconi anemia	2019-12-16	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with glutamic acid at codon 115 of the FANCA protein (p.Gly115Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs748263867, ExAC 0.01%). This variant has been observed in an individual affected with pancreatic cancer (PMID: 28767289). 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: "Probably 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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