ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) (rs142833057)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000503023 SCV000594653 likely pathogenic Fanconi anemia, complementation group A 2016-09-23 criteria provided, single submitter clinical testing
Invitae RCV000630890 SCV000751863 uncertain significance Fanconi anemia 2017-09-18 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1161 of the FANCA protein (p.Thr1161Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs142833057, ExAC 0.02%). This variant has not been reported in the literature in individuals with FANCA-related disease. ClinVar contains an entry for this variant (Variation ID: 435126). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Counsyl RCV000503023 SCV001132388 uncertain significance Fanconi anemia, complementation group A 2019-01-24 no assertion criteria provided clinical testing

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