ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1127A>G (p.Gln376Arg)

dbSNP: rs2143530391
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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 RCV002013536 SCV002292782 uncertain significance Fanconi anemia 2021-06-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 376 of the FANCA protein (p.Gln376Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. 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).

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