ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu)

dbSNP: rs199967286
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505911 SCV000603558 uncertain significance not specified 2017-04-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000505911 SCV002071195 uncertain significance not specified 2019-09-23 criteria provided, single submitter clinical testing
Invitae RCV001857267 SCV002227874 uncertain significance Fanconi anemia 2022-09-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 350 of the FANCA protein (p.Arg350Leu). This variant is present in population databases (no rsID available, gnomAD 0.005%). 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: 439689). 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 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 RCV001276558 SCV002803864 uncertain significance Fanconi anemia complementation group A 2022-05-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276558 SCV001462956 uncertain significance Fanconi anemia complementation group A 2019-10-28 no assertion criteria provided clinical testing

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