ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln)

dbSNP: rs267606757
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Total submissions: 2
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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 RCV004782020 SCV005394449 uncertain significance not specified 2024-09-13 criteria provided, single submitter clinical testing Variant summary: CYP21A2 c.361A>C (p.Lys121Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 242844 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.361A>C has been reported in the literature in at least an individual affected with Congenital Adrenal Hyperplasia (example: Kong_2024). This report(s) however, does not provide unequivocal conclusions about association of the variant with Congenital Adrenal Hyperplasia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 37822034). ClinVar contains an entry for this variant (Variation ID: 18452). Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV000012966 SCV000033210 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2008-07-01 no assertion criteria provided literature only

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