ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3158G>A (p.Arg1053His)

dbSNP: rs371351450
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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 RCV000476511 SCV000547769 uncertain significance Fanconi anemia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1053 of the FANCA protein (p.Arg1053His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs371351450, ExAC 0.006%). This missense change has been observed in individual(s) with esophageal cancer (PMID: 21279724). ClinVar contains an entry for this variant (Variation ID: 408194). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. RCV000476511 SCV002092557 uncertain significance Fanconi anemia 2020-08-20 no assertion criteria provided clinical testing

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