ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.7G>C (p.Asp3His)

gnomAD frequency: 0.00001  dbSNP: rs1246636933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001349027 SCV001543354 uncertain significance Fanconi anemia 2023-08-10 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1044734). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 3 of the FANCA protein (p.Asp3His).
Natera, Inc. RCV001349027 SCV002093171 uncertain significance Fanconi anemia 2020-05-10 no assertion criteria provided clinical testing

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