ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) (rs144908351)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228956 SCV000285883 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094276 SCV000394198 likely benign Fanconi anemia, complementation group I 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000766508 SCV000574041 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing • Observed in cohorts of individuals with a personal and/or family history of cancer; however, several of these individuals also harbored variants in other cancer-related genes and the variant was also observed in control individuals (Cabanillas et al., 2017; Chandrasekharappa et al., 2017; Girard et al., 2019) • Observed with another FANCI variant of uncertain significance in internal GeneDx whole exome sequencing data in association with aplastic anemia and tongue cancer • In silico analysis supports that this missense variant does not alter protein structure/function • Observed in apparent homozygous state in multiple unrelated individuals in large population cohorts (Lek et al., 2016) and in a healthy adult individual tested at GeneDx • We interpret M525V as a likely benign variant
Genetic Services Laboratory,University of Chicago RCV000482252 SCV000594715 uncertain significance not specified 2016-12-05 criteria provided, single submitter clinical testing

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