ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.839C>T (p.Ala280Val) (rs767092317)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673713 SCV000798948 uncertain significance Fanconi anemia, complementation group A 2018-03-29 criteria provided, single submitter clinical testing
Invitae RCV001058370 SCV001222934 uncertain significance Fanconi anemia 2019-11-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 280 of the FANCA protein (p.Ala280Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs767092317, ExAC 0.01%). This variant has been observed in individual(s) with head and neck squamous cell carcinoma (PMID: 28678401). ClinVar contains an entry for this variant (Variation ID: 557556). 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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