ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.679C>G (p.His227Asp)

gnomAD frequency: 0.00008  dbSNP: rs142580507
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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 RCV000692440 SCV000820265 uncertain significance Fanconi anemia 2022-09-23 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 227 of the FANCA protein (p.His227Asp). This variant is present in population databases (rs142580507, 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: 134290). 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 RCV001274655 SCV002781613 uncertain significance Fanconi anemia complementation group A 2022-04-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003415913 SCV004114676 uncertain significance FANCA-related disorder 2022-12-15 criteria provided, single submitter clinical testing The FANCA c.679C>G variant is predicted to result in the amino acid substitution p.His227Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0095% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-89871718-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ITMI RCV000120963 SCV000085131 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001274655 SCV001459009 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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