ClinVar Miner

Submissions for variant NM_022725.3(FANCF):c.1087C>T (p.Gln363Ter) (rs201285915)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482395 SCV000564981 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing The Q363X variant in the FANCF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation due to the loss of the last 12 amino acids for this protein. The Q363X variant is observed in 6/34420 (0.017%) alleles from individuals of Latino background and 18/277242 (0.007%) total alleles in large population cohorts, and no individuals were reported to be homozygous (Lek et al., 2016). We interpret Q363X as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000779056 SCV000915521 uncertain significance Fanconi anemia, complementation group F 2018-12-26 criteria provided, single submitter clinical testing This variant is a stop-gained variant, which was observed by ICSL 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 for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for this disease.

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