ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3000C>G (p.His1000Gln)

gnomAD frequency: 0.00002  dbSNP: rs750421982
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532839 SCV000626179 uncertain significance Fanconi anemia 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1000 of the FANCA protein (p.His1000Gln). This variant is present in population databases (rs750421982, 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: 456107). 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 RCV001330801 SCV001522615 uncertain significance Fanconi anemia complementation group A 2019-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago RCV001821478 SCV002067580 uncertain significance not specified 2018-11-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691846 SCV005193012 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000532839 SCV002092563 uncertain significance Fanconi anemia 2020-02-12 no assertion criteria provided clinical testing

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