ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.892_893del (p.Leu298fs)

dbSNP: rs1553522104
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670937 SCV000795859 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-11-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784267 SCV002021877 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531269 SCV003524649 pathogenic Qualitative or quantitative defects of dysferlin 2024-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu266Phefs*6) 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: 17897828, 33250842, 33610434). This variant is also known as g.794_795delCT (Thr265fsX271); p.Leu298fs. ClinVar contains an entry for this variant (Variation ID: 555171). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465503 SCV004194580 pathogenic Miyoshi muscular dystrophy 1 2021-11-10 criteria provided, single submitter clinical testing

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