ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1730C>G (p.Pro577Arg)

dbSNP: rs1828512489
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211865 SCV001383427 uncertain significance GNE myopathy; Sialuria 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 608 of the GNE protein (p.Pro608Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 941978). 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 disruptive. 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.
Natera, Inc. RCV001833858 SCV002075630 uncertain significance GNE myopathy 2020-03-11 no assertion criteria provided clinical testing

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