Submissions for variant NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000630880	SCV000751852	uncertain significance	Fanconi anemia	2021-08-31	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with alanine at codon 654 of the FANCA protein (p.Thr654Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc.	RCV001271607	SCV001452874	uncertain significance	Fanconi anemia complementation group A	2020-09-16	no assertion criteria provided	clinical testing

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