ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.676G>T (p.Glu226Ter)

gnomAD frequency: 0.00001  dbSNP: rs932467788
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001682654 SCV001905559 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001682654 SCV002240173 pathogenic not provided 2022-03-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1275777). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with vitelliform macular dystrophy (PMID: 28644393). This sequence change creates a premature translational stop signal (p.Glu226*) in the IMPG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IMPG2 are known to be pathogenic (PMID: 20673862). This variant is not present in population databases (gnomAD no frequency).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815588 SCV005069395 likely pathogenic Retinal dystrophy 2017-01-01 criteria provided, single submitter clinical testing

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