ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.470_471del (p.His157fs)

dbSNP: rs1554663368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596855 SCV000703667 pathogenic not provided 2016-11-17 criteria provided, single submitter clinical testing
Invitae RCV001204406 SCV001375612 pathogenic GNE myopathy; Sialuria 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His188Argfs*16) in the GNE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNE are known to be pathogenic (PMID: 24027297). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with distal myopathy with rimmed vacuoles (PMID: 23549799). This variant is also known as His157fs. ClinVar contains an entry for this variant (Variation ID: 498582). For these reasons, this variant has been classified as Pathogenic.

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