ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24684G>A (p.Ser8228=) (rs202048855)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623853 SCV000742389 likely pathogenic Inborn genetic diseases 2017-04-07 criteria provided, single submitter clinical testing
Invitae RCV000820159 SCV000960858 pathogenic Nemaline myopathy 2 2019-09-09 criteria provided, single submitter clinical testing This sequence change affects codon 8228 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 175 of the NEB coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs202048855, ExAC 0.03%). This variant has been observed in combination with another NEB variant in individuals affected with nemaline myopathy (PMID: 24725366, Invitae). This variant is also known as c.24579G>A in the literature. ClinVar contains an entry for this variant (Variation ID 521691). 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. For these reasons, this variant has been classified as Pathogenic.

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