ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.1497C>A (p.Cys499Ter)

dbSNP: rs132630267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556002 SCV004300125 pathogenic not provided 2023-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys499*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with choroideraemia (PMID: 8477262). ClinVar contains an entry for this variant (Variation ID: 11153). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011903 SCV000032136 pathogenic Choroideremia 1993-01-01 no assertion criteria provided literature only

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