Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
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. |
Gene |
RCV000488920 | SCV000576975 | uncertain significance | not provided | 2020-09-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 20981092, 19636199) |
Invitae | RCV000488920 | SCV002336475 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003401284 | SCV004104781 | uncertain significance | CYP17A1-related condition | 2023-07-05 | criteria provided, single submitter | clinical testing | The CYP17A1 c.62G>A variant is predicted to result in the amino acid substitution p.Arg21Lys. This variant has been reported in the homozygous state in an individual with congenital adrenal hyperplasia due to 17-alpha-hydroxylase/17,20-lyase deficiency (Nuzzo et al. 2009. PubMed ID: 19636199). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. This variant is reported in 0.15% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-104597057-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Genome |
RCV001249435 | SCV001423439 | not provided | Deficiency of steroid 17-alpha-monooxygenase | no assertion provided | phenotyping only | Variant interpretted as Uncertain significance and reported on 04-29-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Natera, |
RCV001249435 | SCV001459690 | uncertain significance | Deficiency of steroid 17-alpha-monooxygenase | 2020-09-16 | no assertion criteria provided | clinical testing |