ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.1173+4G>A

gnomAD frequency: 0.00001  dbSNP: rs886039153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311173 SCV000320356 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-11-29 criteria provided, single submitter clinical testing The c.1173+4G>A intronic variant results from a G to A substitution 4 nucleotides after coding exon 10 in the PRKG1 gene. This nucleotide position is 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.
GeneDx RCV000609158 SCV000724322 likely benign not specified 2017-11-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001202766 SCV001373892 uncertain significance Aortic aneurysm, familial thoracic 8 2024-05-13 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the PRKG1 gene. It does not directly change the encoded amino acid sequence of the PRKG1 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PRKG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 264425). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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