ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.840+5G>T

dbSNP: rs1064796485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486551 SCV000573258 uncertain significance not provided 2021-03-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856875 SCV002262416 uncertain significance Aortic aneurysm, familial thoracic 8 2024-03-04 criteria provided, single submitter clinical testing This sequence change falls in intron 6 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. This variant is not present in population databases (gnomAD no frequency). 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: 423548). 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 may disrupt the consensus splice site. 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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