ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.445T>G (p.Leu149Val)

gnomAD frequency: 0.00004  dbSNP: rs372814783
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630951 SCV000751927 uncertain significance Fanconi anemia 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 149 of the FANCA protein (p.Leu149Val). This variant is present in population databases (rs372814783, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 526423). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCA 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.
Baylor Genetics RCV001293972 SCV001482696 uncertain significance Fanconi anemia complementation group A 2020-05-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478350 SCV004218619 uncertain significance not provided 2023-05-15 criteria provided, single submitter clinical testing The frequency of this variant in the general population, 0.000023 (3/129198 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in an unaffected control individual in an ovarian cancer (OC) study (PMID: 32546565 (2021)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV000630951 SCV002090765 uncertain significance Fanconi anemia 2021-04-14 no assertion criteria provided clinical testing

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