ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.893C>T (p.Thr298Ile)

gnomAD frequency: 0.00022  dbSNP: rs140716870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553604 SCV000659240 likely benign Aortic aneurysm, familial thoracic 8 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315043 SCV000739572 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-04-23 criteria provided, single submitter clinical testing The p.T298I variant (also known as c.893C>T), located in coding exon 7 of the PRKG1 gene, results from a C to T substitution at nucleotide position 893. The threonine at codon 298 is replaced by isoleucine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs140716870. Based on data from ExAC, the T allele was reported in 13 of 119900 (0.01%) total alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed February 29, 2016]). Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.02% (3/13006) total alleles studied, having been observed in 0.07% (3/4406) African American alleles. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
GeneDx RCV001556824 SCV001778473 uncertain significance not provided 2024-10-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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