ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.386C>A (p.Ala129Glu)

dbSNP: rs577625130
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302004 SCV001491192 uncertain significance Fanconi anemia 2021-01-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FANCA-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glutamic acid at codon 129 of the FANCA protein (p.Ala129Glu). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and glutamic acid.

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