ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)

dbSNP: rs104894062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851528 SCV002278865 likely pathogenic not provided 2022-10-08 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that this missense change affects CYP11B1 function (PMID: 8506298). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1174). This missense change has been observed in individuals with congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (PMID: 8506298, 28228528). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 374 of the CYP11B1 protein (p.Arg374Gln). This variant also falls at the last nucleotide of exon 6, which is part of the consensus splice site for this exon.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000001233 SCV004190270 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-11-20 criteria provided, single submitter clinical testing ACMG:PS1 PM1 PM2 PP3 PP5
Baylor Genetics RCV000001233 SCV004215323 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-10-31 criteria provided, single submitter clinical testing
OMIM RCV000001233 SCV000021383 pathogenic Deficiency of steroid 11-beta-monooxygenase 2009-07-01 no assertion criteria provided literature only

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