ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1531C>T (p.Pro511Ser)

gnomAD frequency: 0.00001  dbSNP: rs966918577
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734973 SCV000863158 uncertain significance not provided 2018-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001385021 SCV001584729 pathogenic GNE myopathy; Sialuria 2023-05-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 542 of the GNE protein (p.Pro542Ser). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro542 amino acid residue in GNE. Other variant(s) that disrupt this residue have been observed in individuals with GNE-related conditions (PMID: 16810679, 17718674), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 598553). This missense change has been observed in individual(s) with clinical features of GNE-related myopathy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV005049677 SCV005682216 likely pathogenic GNE myopathy; Sialuria; Thrombocytopenia 12 with or without myopathy 2024-02-16 criteria provided, single submitter clinical testing

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