ClinVar Miner

Submissions for variant NC_000003.12:g.10073363G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000826140 SCV000967667 pathogenic Fanconi anemia 2016-02-19 criteria provided, single submitter clinical testing The c.2715+1G>A variant in FANCD2 has been identified in two individuals with Fa nconi anemia (Kalb 2007) and has also been identified in the general population with the highest frequency found at 0.06% (4/6614) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201 811817). Although this variant is seen in the general population, its frequency is consistent with a recessive carrier frequency. This variant occurs in the inv ariant region (+/- 1,2) of the splice consensus sequence and is predicted to cau se altered splicing leading to an abnormal or absent protein. In addition, in vi tro functional studies provide evidence that the c.2715+1G>A variant causes aber rant splicing (Kalb 2007). In summary, this variant meets our criteria to be cla ssified as pathogenic for Fanconi anemia in an autosomal recessive manner based upon case studies and functional evidence.

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