ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2414C>T (p.Pro805Leu)

dbSNP: rs1303230442
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993569 SCV002249165 uncertain significance Fanconi anemia 2020-11-04 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. This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 805 of the FANCA protein (p.Pro805Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine.

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