ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.1470C>T (p.Asp490=) (rs778189876)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614930 SCV000718269 likely benign not specified 2017-04-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000641353 SCV000762994 uncertain significance Nemaline myopathy 2 2017-12-14 criteria provided, single submitter clinical testing This sequence change affects codon 490 of the NEB mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NEB protein. This variant also falls at the last nucleotide of exon 16 of the NEB coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs778189876, ExAC 0.002%). This variant has been reported as in combination with another NEB variant in an individual affected with nemaline myopathy (PMID: 25214167). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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