ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.190-2A>G

dbSNP: rs774941511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039352 SCV001202882 pathogenic not provided 2021-10-22 criteria provided, single submitter clinical testing Studies have shown that disruption of this splice site results in a deletion of 8 basepairs and introduces a premature termination codon (PMID: 12827496). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 837911). Disruption of this splice site has been observed in individuals with choroideremia (PMID: 12827496, 27247961, 27936069). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 3 of the CHM gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001039352 SCV001785524 pathogenic not provided 2020-01-16 criteria provided, single submitter clinical testing Published RNA sequencing studies revealed the utilization of a cryptic splice site and the production of a premature termination codon (van den Hurk et al., 2003); Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 12827496, 21268676, 25525159)

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