ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.700A>T (p.Lys234Ter)

dbSNP: rs2147675263
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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 RCV001970053 SCV002230918 pathogenic not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys234*) 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 choroideremia (PMID: 20027300, 27247961). ClinVar contains an entry for this variant (Variation ID: 1455562). For these reasons, this variant has been classified as Pathogenic.

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