ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) (rs538343832)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578557 SCV000680893 uncertain significance not provided 2016-10-17 criteria provided, single submitter clinical testing The R516X variant in the FLVCR1 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. The R516X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R516X as a variant of uncertain significance.
Mendelics RCV000986511 SCV001135526 pathogenic Posterior column ataxia-retinitis pigmentosa syndrome 2019-05-28 criteria provided, single submitter clinical testing

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