ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.1338C>A (p.Ser446Arg)

gnomAD frequency: 0.00001  dbSNP: rs1368429980
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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 RCV002000857 SCV002274747 uncertain significance Aortic aneurysm, familial thoracic 8 2021-06-17 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PRKG1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 446 of the PRKG1 protein (p.Ser446Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697178 SCV005197277 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing

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