ClinVar Miner

Submissions for variant NM_000103.4(CYP19A1):c.1282C>T (p.Gln428Ter)

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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 RCV005111094 SCV005730095 pathogenic not provided 2024-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln428*) in the CYP19A1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 76 amino acid(s) of the CYP19A1 protein. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the CYP19A1 protein in which other variant(s) (p.Arg435Cys) have been determined to be pathogenic (internal data). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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