ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23848-1G>C (rs797045098)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000190608 SCV000245642 likely pathogenic Nemaline myopathy 2 2014-10-07 criteria provided, single submitter clinical testing The c.23848-1G>C variant in NEB has not been previously reported in individuals with nemaline myopathy. It was absent from large population studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Complete loss of NEB function is an established disease mechanism in nemaline myopathy. In summary, although additional studies are required to fully establish its clinical significance, the c.23848-1 G>C variant is likely pathogenic.
Natera, Inc. RCV000190608 SCV001459171 likely pathogenic Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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