ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.706A>G (p.Met236Val) (rs771319430)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000220492 SCV000279210 uncertain significance not provided 2018-11-08 criteria provided, single submitter clinical testing This variant is denoted FANCC c.706A>G at the cDNA level, p.Met236Val (M236V) at the protein level, and results in the change of a Methionine to a Valine (ATG>GTG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Met236Val was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in Hsp70 and GRP94 binding domains (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 information, it is unclear whether FANCC Met236Val is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV001025994 SCV001188292 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-21 criteria provided, single submitter clinical testing Insufficient evidence

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