ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met) (rs138432305)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469963 SCV000547820 uncertain significance Fanconi anemia 2019-08-23 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 987 of the FANCI protein (p.Thr987Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs138432305, ExAC 0.01%) but has not been reported in the literature in individuals with a FANCI-related disease. 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: Possibly Damaging; Align-GVGD: Class C0). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000765228 SCV000896464 uncertain significance Fanconi anemia, complementation group I 2018-10-31 criteria provided, single submitter clinical testing
Division of Gastroenterology and Hepatology, Shanghai Institute of Digestive Disease,Shanghai Jiao Tong University School of Medicine. RCV001543608 SCV001754757 likely pathogenic Malignant Colorectal Neoplasm 2021-07-19 no assertion criteria provided research The Thr987Met variant in FANCI has been reported in 1 Chinese family with autosomal dominant predisposition in familial colorectal cancer (CRC).

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