ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4418_4419dup (p.Val1474fs)

dbSNP: rs1574354166
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798964 SCV000938609 pathogenic Qualitative or quantitative defects of dysferlin 2021-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 644959). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val1456Thrfs*31) 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).

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