ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.849T>A (p.Tyr283Ter) (rs760412752)

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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 RCV000293402 SCV000394184 uncertain significance Fanconi anemia, complementation group I 2017-04-27 criteria provided, single submitter clinical testing The FANCI c.849T>A (p.Tyr283Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Tyr283Ter variant is reported at a frequency of 0.00001 in the European (non-Finnish) population of the Exome Aggregation Consortium. This frequency is based on one allele in a region of good coverage, so the variant is presumed to be rare. Due to the potential impact of stop-gained variants, and the lack of clarifying evidence, the p.Tyr283Ter 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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