ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys)

gnomAD frequency: 0.00002  dbSNP: rs144045461
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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 Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171355 SCV000221552 likely pathogenic not provided criteria provided, single submitter research
Genetic Services Laboratory, University of Chicago RCV000504467 SCV000595564 uncertain significance not specified 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV002513788 SCV003290032 uncertain significance Muscular dystrophy-dystroglycanopathy type B6 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 598 of the LARGE1 protein (p.Glu598Lys). This variant is present in population databases (rs144045461, gnomAD 0.006%). This missense change has been observed in individual(s) with LARGE1-related conditions (PMID: 28556411). ClinVar contains an entry for this variant (Variation ID: 72928). 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. 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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