ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.1565C>G (p.Ser522Ter)

dbSNP: rs2148126425
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001898053 SCV002165410 pathogenic not provided 2021-08-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with choroideremia (PMID: 31922496). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser522*) in the CHM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHM are known to be pathogenic (PMID: 9067750, 23811034).

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