ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) (rs779261511)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519962 SCV000616933 uncertain significance not provided 2018-02-12 criteria provided, single submitter clinical testing This variant is denoted FANCC c.1259C>T at the cDNA level, p.Thr420Met (T420M) at the protein level, and results in the change of a Threonine to a Methionine (ACG>ATG). This variant has not, to our knowledge, been published in the literature as a germline variant; however, it has been reported as a somatic variant in a colon tumor (Giannakis 2016). FANCC Thr420Met was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the region of interaction with Hsp70 (Gordon 2000). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether FANCC Thr420Met is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Mendelics RCV000988202 SCV001137839 uncertain significance Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing

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