ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.1152+5G>A (rs111404077)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535451 SCV000640504 uncertain significance Nemaline myopathy 2 2018-05-29 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the NEB mRNA. It does not directly change the encoded amino acid sequence of the NEB protein. This variant is present in population databases (rs111404077, ExAC 0.07%). This variant has been reported in a single family affected with unspecified nemaline myopathy (PMID: 25205138). ClinVar contains an entry for this variant (Variation ID: 465438). Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000535451 SCV000788517 uncertain significance Nemaline myopathy 2 2017-01-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000535451 SCV000915322 uncertain significance Nemaline myopathy 2 2017-08-03 criteria provided, single submitter clinical testing The NEB c.1152+5G>A variant has been reported in one study in which it is found in an unspecified number of individuals in one family with a form of nemaline myopathy in a compound heterozygous state with a stop-gained variant (Lehtokari et al. 2014). Control data are unavailable for this variant, which is reported at a frequency of 0.00066 in the European (non-Finnish) population of the Exome Aggregation Consortium. The evidence for this variant is limited. The c.1152+5G>A variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive nemaline myopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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