Submissions for variant NM_005476.7(GNE):c.694del (p.Met232fs)

dbSNP: rs1554661549

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000627621	SCV000748621	likely pathogenic	not provided	2019-06-18	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV001860491	SCV002243004	pathogenic	GNE myopathy; Sialuria	2023-07-17	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Met263Cysfs*4) 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 variant has not been reported in the literature in individuals affected with GNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 524125). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc.	RCV001274365	SCV001458439	likely pathogenic	GNE myopathy	2020-09-16	no assertion criteria provided	clinical testing