ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222318 SCV001394412 uncertain significance Fanconi anemia 2019-07-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 582 of the FANCD2 protein (p.Ala582Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs768105189, ExAC 0.01%). This variant has not been reported in the literature in individuals with FANCD2-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 valine 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Illumina Clinical Services Laboratory,Illumina RCV001270809 SCV001451573 uncertain significance Fanconi anemia, complementation group D2 2019-06-27 criteria provided, single submitter clinical testing The FANCD2 c.1745C>T (p.Ala582Val) variant is a missense variant. A literature search was performed for the gene, cDNA change and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000131 in the South Asian population of the Genome Aggregation Database. Based on the limited evidence, the p.Ala582Val variant is classified as a variant of uncertain significance for Fanconi anemia.

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