ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.1710-4G>A

gnomAD frequency: 0.00008  dbSNP: rs374445349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001440345 SCV001643253 likely benign Aortic aneurysm, familial thoracic 8 2023-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405033 SCV002712915 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-11-09 criteria provided, single submitter clinical testing The c.1710-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 15 in the PRKG1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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