ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.175C>T (p.Arg59Ter)

gnomAD frequency: 0.00003  dbSNP: rs745517517
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725751 SCV000339160 pathogenic not provided 2016-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034690 SCV000638333 pathogenic GNE myopathy; Sialuria 2023-05-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs745517517, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg90*) 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 has not been reported in the literature in individuals affected with GNE-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 285936).
Revvity Omics, Revvity RCV000725751 SCV003824619 pathogenic not provided 2022-06-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000593290 SCV004199389 pathogenic GNE myopathy 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005044535 SCV005682232 pathogenic GNE myopathy; Sialuria; Thrombocytopenia 12 with or without myopathy 2024-06-18 criteria provided, single submitter clinical testing
Counsyl RCV000593290 SCV001132409 likely pathogenic GNE myopathy 2015-03-02 no assertion criteria provided clinical testing
Natera, Inc. RCV000593290 SCV002075664 pathogenic GNE myopathy 2020-09-10 no assertion criteria provided clinical testing

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