ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.353C>T (p.Ala118Val)

gnomAD frequency: 0.00001  dbSNP: rs1201642328
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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 RCV000804007 SCV000943897 uncertain significance Fanconi anemia 2024-08-27 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 118 of the FANCA protein (p.Ala118Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 649143). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt FANCA protein function with a positive predictive value of 80%. 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 RCV001274660 SCV002797123 uncertain significance Fanconi anemia complementation group A 2021-07-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274660 SCV001459014 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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