ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.133G>A (p.Glu45Lys)

gnomAD frequency: 0.00001  dbSNP: rs142990858
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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 RCV000457577 SCV000547755 uncertain significance Fanconi anemia 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 45 of the FANCA protein (p.Glu45Lys). This variant is present in population databases (rs142990858, gnomAD 0.009%). 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: 408182). 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.
Natera, Inc. RCV000457577 SCV002090795 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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