ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1016C>T (p.Ala339Val)

gnomAD frequency: 0.00019  dbSNP: rs193922536
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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 RCV000029636 SCV000052288 uncertain Congenital adrenal hyperplasia 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Ambry Genetics RCV002513246 SCV003713351 uncertain significance Inborn genetic diseases 2021-10-20 criteria provided, single submitter clinical testing The c.1016C>T (p.A339V) alteration is located in exon 6 (coding exon 6) of the CYP11B1 gene. This alteration results from a C to T substitution at nucleotide position 1016, causing the alanine (A) at amino acid position 339 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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