ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.136G>T (p.Val46Leu)

gnomAD frequency: 0.00001  dbSNP: rs1366722396
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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 RCV001913174 SCV002175982 uncertain significance Fanconi anemia complementation group E 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 46 of the FANCE protein (p.Val46Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with FANCE-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 leucine 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.

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