ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.1258-7C>G (rs371265681)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726720 SCV000582934 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NEB gene. The c.1258-7 C>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1258-7 C>G variant is observed in 19/9798 (0.19%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Multiple in-silico algorithms predict that c.1258-7 C>G may weaken the natural splice acceptor site for intron 14 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change on gene splicing in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726720 SCV000702424 uncertain significance not provided 2016-10-21 criteria provided, single submitter clinical testing
Invitae RCV001080439 SCV001017013 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080439 SCV001457263 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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