ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24220-151C>A (rs1575076895)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV001004941 SCV001164464 uncertain significance Nemaline myopathy 2 2018-12-03 criteria provided, single submitter research The heterozygous c.24115-151C>A variant in NEB was identified by our study in the compound heterozygous state, with a likely pathogenic variant, in one individual with nemaline myopathy. This variant was absent from large population studies. Computational prediction tools do not provide strong support for or against an impact to the protein. However, the presence of this variant in combination with a likely pathogenic variant and in an individual with nemaline myopathy increases the likelihood that the c.24115-151C>A variant is pathogenic. In summary, the clinical significance of the c.24115-151C>A variant is uncertain. ACMG/AMP Criteria applied: PM2, PM3_Supporting (Richards 2015).

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