ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.1066A>T (p.Lys356Ter)

dbSNP: rs2147663153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591917 SCV001816077 pathogenic Choroideremia 2021-06-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002571164 SCV003271255 pathogenic not provided 2022-03-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1213974). This variant has not been reported in the literature in individuals affected with CHM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys356*) 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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