ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.776C>G (p.Pro259Arg)

dbSNP: rs1598173112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001859107 SCV002211871 uncertain significance Fanconi anemia 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 259 of the FANCA protein (p.Pro259Arg). This variant is not present in population databases (gnomAD no frequency). 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: 915869). 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.
Fulgent Genetics, Fulgent Genetics RCV001255872 SCV002784219 uncertain significance Fanconi anemia complementation group A 2021-07-30 criteria provided, single submitter clinical testing
Istanbul Faculty of Medicine, Istanbul University RCV001255872 SCV001296377 uncertain significance Fanconi anemia complementation group A 2020-03-17 no assertion criteria provided clinical testing Segregates in family

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