ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1081T>C (p.Tyr361His)

gnomAD frequency: 0.00001  dbSNP: rs1192630467
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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 RCV000688233 SCV000815836 uncertain significance GNE myopathy; Sialuria 2022-09-16 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 392 of the GNE protein (p.Tyr392His). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with myopathy (PMID: 29480215). ClinVar contains an entry for this variant (Variation ID: 568002). 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.
Revvity Omics, Revvity RCV003129995 SCV003815053 uncertain significance not provided 2021-03-20 criteria provided, single submitter clinical testing

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