ClinVar Miner

Submissions for variant NM_000507.4(FBP1):c.271G>T (p.Ala91Ser)

dbSNP: rs41316538
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699706 SCV000828429 uncertain significance Fructose-biphosphatase deficiency 2018-05-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 91 of the FBP1 protein (p.Ala91Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FBP1-related disease. 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 serine 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. 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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