ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.159_160del (p.Gln54fs) (rs886038207)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenePathDx,Causeway Health Care Private Ltd RCV000256427 SCV000301483 likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2016-09-28 criteria provided, single submitter clinical testing This 2 base deletion in exon 1 of the CYP21A2 gene was present in a homozygous state in a case of congenital adrenal hyperplasia due to 21 hydroxylase deficiency (21-OH CAH). Clinical history, examination and biochemical investigations were almost confirmatory for 21-OH CAH. This is a novel variant which has never been reported in literature or in the annotated databases. This deletion is predicted to cause a shift in the translational reading frame and results in a loss of function variant. In-silico mutation analysis software categorize it as “damaging/ disease causing”. This variant has not been previously reported in our in-house database of variants, which consist of clinical exome sequencing data of over 150 Indian patients who were referred for conditions other than 21-OH CAH indicating that this variant is not a common polymorphism in our population. Based on available evidences, this variant was classified as “Likely to be pathogenic”.

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