ClinVar Miner

Submissions for variant NM_001563.4(IMPG1):c.175C>T (p.Arg59Ter)

gnomAD frequency: 0.00001  dbSNP: rs200651043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760627 SCV000890519 likely pathogenic not provided 2018-07-24 criteria provided, single submitter clinical testing The R59X variant in the IMPG1 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 either through protein truncation or nonsense-mediated mRNA decay. The R59X variant is observed in 7/246,038 (0.0028%) global alleles in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). We interpret R59X as a likely pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000760627 SCV001411525 pathogenic not provided 2024-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg59*) in the IMPG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IMPG1 are known to be pathogenic (PMID: 23993198). This variant is present in population databases (rs200651043, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with IMPG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 620263). For these reasons, this variant has been classified as Pathogenic.

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