ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) (rs61754263)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488920 SCV000576975 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing The R21K variant in the CYP17A1 gene has been reported previously, using alternate nomenclature R21L, in the homozygous state in an adult with congenital adrenal hyperplasia who initially presented with primary amenorrhea, hypokalemic myopathy and hypertension (Nuzzo et al., 2009). The R21K variant is observed in 95/66698 (0.14%) alleles from individuals of non-Finnish European background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R21K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret R21K as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000303229 SCV000360146 uncertain significance Congenital adrenal hyperplasia 2016-06-14 criteria provided, single submitter clinical testing The c.62G>A (p.Arg21Lys) variant was reported in a homozygous state in a patient with congenital adrenal hyperplasia due to 17alpha-hydroxylase/17,20-lyase deficiency (Nuzzo et al. 2009). Studies of available family members showed that the patient's unaffected mother and sister were both heterozygous for this variant. Control data are unavailable for this variant, which is reported at a frequency of 0.00298 in the European population of the 1000 Genomes Project. The evidence for this variant is limited. The p.Arg21Lys variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for congenital adrenal hyperplasia.

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