ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs538343832
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Total submissions: 3
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000578557 SCV002164773 pathogenic not provided 2023-08-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg516*) in the FLVCR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLVCR1 are known to be pathogenic (PMID: 23591405, 27923065). This variant is present in population databases (rs538343832, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FLVCR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 488940). For these reasons, this variant has been classified as Pathogenic.

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