ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter)

dbSNP: rs201592500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178687 SCV000230814 pathogenic not provided 2013-06-14 criteria provided, single submitter clinical testing
Invitae RCV003574712 SCV004292578 pathogenic Qualitative or quantitative defects of dysferlin 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1833*) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with DYSF-related conditions (PMID: 33610434, 34559919). ClinVar contains an entry for this variant (Variation ID: 94339). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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