ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter)

dbSNP: rs1553939806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667077 SCV000791472 likely pathogenic Nemaline myopathy 2 2017-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667077 SCV001583258 pathogenic Nemaline myopathy 2 2023-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser3143*) in the NEB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 551907). For these reasons, this variant has been classified as Pathogenic.

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