ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.937C>T (p.Gln313Ter) (rs1577253760)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853275 SCV000996107 pathogenic Nemaline myopathy 2 2018-02-08 criteria provided, single submitter clinical testing This stop-gain variant that is predicted to result in premature termination of the nemaline protein. This variant has not been previously reported in the literature to our knowledge, but other pathogenic stop-gain changes have been reported in the literature in association with nemaline myopathy (PMID: 25205138, 29669168). In addition, this variant is not present in the SNP databases. Based on the overall evidence, we classified the p.Gln313Ter variant as pathogenic.

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