ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791641 SCV000930899 uncertain significance Fanconi anemia 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces proline with glutamine at codon 67 of the FANCA protein (p.Pro67Gln). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and glutamine. This variant is present in population databases (rs200698961, ExAC 0.02%). This variant has been observed in an individual affected with pancreatic cancer (PMID: 28767289). This variant is also known as c.200G>T in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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