ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.731del (p.Ile244fs)

dbSNP: rs1569118851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760161 SCV000889978 pathogenic Nystagmus 6, congenital, X-linked 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002533136 SCV002955233 pathogenic not provided 2023-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile244Thrfs*10) in the GPR143 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GPR143 are known to be pathogenic (PMID: 15965158, 18978956, 19390656, 21541274, 26160353, 28211458). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GPR143-related conditions. ClinVar contains an entry for this variant (Variation ID: 619966). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002533136 SCV003803348 pathogenic not provided 2023-02-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18978956, 28211458, 26160353, 15965158, 21541274, 19390656)

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