ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val)

gnomAD frequency: 0.00002  dbSNP: rs1419279017
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702739 SCV000831606 uncertain significance Fanconi anemia 2022-08-20 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 1066 of the FANCA protein (p.Ala1066Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 579454). 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.
Fulgent Genetics, Fulgent Genetics RCV002485735 SCV002784865 uncertain significance Fanconi anemia complementation group A 2022-04-22 criteria provided, single submitter clinical testing
GeneDx RCV003223672 SCV003919337 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000702739 SCV002092548 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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