ClinVar Miner

Submissions for variant NM_000103.4(CYP19A1):c.385G>T (p.Glu129Ter)

dbSNP: rs1239898028
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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 RCV003543692 SCV004248902 pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu129*) in the CYP19A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP19A1 are known to be pathogenic (PMID: 14602738, 27086564, 27256151). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CYP19A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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