ClinVar Miner

Submissions for variant NM_198252.3(GSN):c.1585G>A (p.Glu529Lys)

dbSNP: rs2063220897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196370 SCV001366977 uncertain significance Finnish type amyloidosis 2019-09-16 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,BP1.
OMIM RCV001196370 SCV004028541 pathogenic Finnish type amyloidosis 2024-05-17 no assertion criteria provided literature only

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