ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)

dbSNP: rs1057516676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409018 SCV000486052 likely pathogenic Nemaline myopathy 2 2016-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409018 SCV003793406 pathogenic Nemaline myopathy 2 2023-08-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370674). This premature translational stop signal has been observed in individual(s) with nemaline myopathy (PMID: 33667896). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2680*) 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).
Baylor Genetics RCV003470330 SCV004192635 likely pathogenic Arthrogryposis multiplex congenita 6 2023-11-26 criteria provided, single submitter clinical testing

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