ClinVar Miner

Submissions for variant NM_000103.4(CYP19A1):c.1124G>T (p.Arg375Leu)

dbSNP: rs762631156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587970 SCV005075774 uncertain significance not specified 2024-04-03 criteria provided, single submitter clinical testing Variant summary: CYP19A1 c.1124G>T (p.Arg375Leu) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251176 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1124G>T in individuals affected with Aromatase deficiency and no experimental evidence demonstrating its impact on protein function have been reported. A different missense change affecting this amino acid has been determined to be pathogenic, suggesting this may be a functionally important residue. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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