ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.2042G>C (p.Gly681Ala)

gnomAD frequency: 0.00002  dbSNP: rs750949508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Internal Medicine, University of Texas Health Science Center at Houston RCV000191954 SCV000246204 uncertain significance Aortic aneurysm, familial thoracic 8 2014-01-17 criteria provided, single submitter research
GeneDx RCV000522819 SCV000617844 uncertain significance not provided 2024-12-10 criteria provided, single submitter clinical testing Identified in one individual with aortic dissection in published literature; this variant was maternally inherited and also identified in several unaffected maternal relatives (PMID: 23910461); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23910461)
Labcorp Genetics (formerly Invitae), Labcorp RCV000191954 SCV004536166 uncertain significance Aortic aneurysm, familial thoracic 8 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 681 of the PRKG1 protein (p.Gly681Ala). This variant is present in population databases (rs750949508, gnomAD 0.002%). This missense change has been observed in individual(s) with thoracic aortic aneurysm and dissection (PMID: 23910461). This variant is also known as c.1997G>C (p.Gly666Ala). ClinVar contains an entry for this variant (Variation ID: 210009). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change does not substantially affect PRKG1 function (PMID: 23910461). 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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