ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) (rs757523840)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000270327 SCV000339878 pathogenic not provided 2016-03-02 criteria provided, single submitter clinical testing
Invitae RCV000692448 SCV000820273 pathogenic GNE myopathy; Sialuria 2019-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser646*) in the GNE gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs757523840, ExAC 0.001%). This variant has been reported in combination with another GNE variant in an individual affected with hereditary inclusion body myopathy (PMID: 20059379). This variant is also known as S615X in the literature. ClinVar contains an entry for this variant (Variation ID: 286439). Loss-of-function variants in GNE are known to be pathogenic (PMID: 24027297). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000984180 SCV001132209 likely pathogenic GNE myopathy 2015-03-26 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000984180 SCV001423198 not provided GNE myopathy no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 10-29-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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