ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.116G>C (p.Arg39Thr)

dbSNP: rs151089298
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001801132 SCV002046993 uncertain significance not specified 2021-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541345 SCV003028484 uncertain significance Fanconi anemia 2023-07-18 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: 1330115). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is present in population databases (rs151089298, gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 39 of the FANCA protein (p.Arg39Thr).

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