ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1631-12_1631-2del (rs886043327)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000481085 SCV000339493 pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000481085 SCV000566286 pathogenic not provided 2015-04-10 criteria provided, single submitter clinical testing The c.1631-12_1631-2del11 splice site variant in the ANO5 gene destroys the canonical splice acceptor sitein intron 15. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that issubject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used forprotein translation. It was not observed in approximately 6,500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations. Although this variant has not been previously reported to our knowledge, a nearby splice sitevariant (c.1631-3C>G) in the ANO5 gene has been reported in association with muscular dystrophy(Stenson et al., 2014). We interpret c.1631-12_1631-2del11 as a pathogenic variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000481085 SCV000608581 likely pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing

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