ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.785A>T (p.Tyr262Phe)

dbSNP: rs2133254634
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960938 SCV002244323 uncertain significance Aortic aneurysm, familial thoracic 8 2021-04-24 criteria provided, single submitter clinical testing 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: "Benign"; 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. This variant has not been reported in the literature in individuals with PRKG1-related conditions. This sequence change replaces tyrosine with phenylalanine at codon 262 of the PRKG1 protein (p.Tyr262Phe). The tyrosine residue is moderately conserved and there is a small physicochemical difference between tyrosine and phenylalanine. This variant is not present in population databases (ExAC no frequency).

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