ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.11585_11586delinsC (p.Tyr3862fs) (rs1553896522)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550620 SCV000640505 pathogenic Nemaline myopathy 2 2016-10-09 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides and inserts 1 nucleotide in exon 77 of the NEB mRNA (c.11585_11586delinsC), causing a frameshift at codon 3862. This creates a premature translational stop signal (p.Tyr3862Serfs*16) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEB are known to be pathogenic. This particular variant has been reported in the literature (PMID: 16917880). For these reasons, this variant has been classified as Pathogenic.

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