ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.80C>T (p.Pro27Leu) (rs1236647498)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666276 SCV000790539 likely pathogenic GNE myopathy 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV001214257 SCV001385931 likely pathogenic GNE myopathy; Sialuria 2019-07-15 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 58 of the GNE protein (p.Pro58Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with GNE myopathy (PMID: 22507750, 24027297, 24005727). ClinVar contains an entry for this variant (Variation ID: 551266). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant disrupts the p.Pro58 amino acid residue in GNE gene. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID:21708040, 28717665, 27829678). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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