ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2147A>G (p.His716Arg)

gnomAD frequency: 0.00001  dbSNP: rs751474452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246216 SCV001419557 uncertain significance Fanconi anemia 2022-05-28 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 716 of the FANCA protein (p.His716Arg). This variant is present in population databases (rs751474452, gnomAD 0.04%). 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: 970614). 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 RCV002491829 SCV002789778 uncertain significance Fanconi anemia complementation group A 2021-08-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001246216 SCV002092631 uncertain significance Fanconi anemia 2020-05-04 no assertion criteria provided clinical testing

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