ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.3G>A (p.Met1Ile) (rs1368374192)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779587 SCV000916271 uncertain significance Fanconi anemia, complementation group C 2018-10-17 criteria provided, single submitter clinical testing The FANCC c.3G>A (p.Met1?) variant is predicted to disrupt the initiator codon, and may interfere with protein expression. The p.Met1? variant has not been reported in the literature in association with Fanconi anemia but was identified in an individual with head and neck squamous cell carcinoma (Chandrasekharappa et al. 2017). Control data are unavailable for this variant, which is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database. However, this frequency is based on one allele only, so the variant is presumed to be rare. Based on the variant frequency and the disease prevalence, penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact on protein expression and the lack of clarifying evidence, the p.Met1? variant is classified as a variant of unknown significance but suspicious for pathogenicity for Fanconi anemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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