ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.1714C>A (p.Pro572Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000801552 SCV000986922 not provided Aortic aneurysm, familial thoracic 8 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 11/02/2018 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000801552 SCV000941331 uncertain significance Aortic aneurysm, familial thoracic 8 2018-11-09 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 572 of the PRKG1 protein (p.Pro572Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRKG1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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