Submissions for variant NM_000781.3(CYP11A1):c.17T>G (p.Leu6Arg)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004766725	SCV005381817	uncertain significance	not specified	2024-08-23	criteria provided, single submitter	clinical testing	Variant summary: CYP11A1 c.17T>G (p.Leu6Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 250496 control chromosomes, predominantly at a frequency of 5.3e-05 within the Non-Finnish European subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.17T>G in individuals affected with Adrenal Insufficiency, Congenital, With 46XY Sex Reversal, Partial Or Complete and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics	RCV005003806	SCV005633249	uncertain significance	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	2024-06-17	criteria provided, single submitter	clinical testing