ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.916C>T (p.Arg306Ter)

gnomAD frequency: 0.00003  dbSNP: rs1057516374
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409849 SCV000485549 likely pathogenic GNE myopathy 2016-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390114 SCV001591740 pathogenic GNE myopathy; Sialuria 2023-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg337*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individuals with autosomal recessive GNE myopathy (PMID: 25986339, 29480215). This variant is also known as p.Arg306*. ClinVar contains an entry for this variant (Variation ID: 370285). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001782866 SCV002024878 pathogenic not provided 2020-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005004141 SCV002795254 pathogenic GNE myopathy; Sialuria; Thrombocytopenia 12 with or without myopathy 2024-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409849 SCV005059618 pathogenic GNE myopathy 2023-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000409849 SCV002075657 pathogenic GNE myopathy 2021-06-03 no assertion criteria provided clinical testing

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