ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.59C>T (p.Ala20Val)

gnomAD frequency: 0.00010  dbSNP: rs927154227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001897755 SCV002157445 uncertain significance Fanconi anemia complementation group E 2022-10-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 20 of the FANCE protein (p.Ala20Val). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1384658). 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 valine 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.
Fulgent Genetics, Fulgent Genetics RCV001897755 SCV002784852 uncertain significance Fanconi anemia complementation group E 2022-04-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693869 SCV005188906 uncertain significance not provided criteria provided, single submitter not provided

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