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 2024-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315043 SCV000739572 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-11-13 criteria provided, single submitter clinical testing The c.893C>T (p.T298I) alteration is located in exon 7 (coding exon 7) of the PRKG1 gene. This alteration results from a C to T substitution at nucleotide position 893, causing the threonine (T) at amino acid position 298 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration 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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