Submissions for variant NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) (rs763187355)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000229622	SCV000283551	uncertain significance	Fanconi anemia	2019-11-13	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with aspartic acid at codon 743 of the FANCA protein (p.Gly743Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs763187355, ExAC 0.01%). This variant has not been reported in the literature in individuals with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 237039). 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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