ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)

dbSNP: rs986773986
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596934 SCV000701257 uncertain significance not provided 2016-11-28 criteria provided, single submitter clinical testing
Counsyl RCV000671522 SCV000796506 uncertain significance GNE myopathy 2017-12-27 criteria provided, single submitter clinical testing
Invitae RCV001378882 SCV001576569 likely pathogenic GNE myopathy; Sialuria 2024-01-05 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 559 of the GNE protein (p.Phe559Cys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with autosomal recessive GNE-related conditions (PMID: 12497639). It has also been observed to segregate with disease in related individuals. This variant is also known as c.1583T>G, p.Phe528Cys. ClinVar contains an entry for this variant (Variation ID: 497075). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GNE protein function. Experimental studies have shown that this missense change affects GNE function (PMID: 16503651). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV000671522 SCV004199390 likely pathogenic GNE myopathy 2023-08-29 criteria provided, single submitter clinical testing

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