ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5003+1249G>T

dbSNP: rs886042110
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353624 SCV000331706 pathogenic not provided 2016-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855080 SCV002243453 pathogenic Qualitative or quantitative defects of dysferlin 2024-10-22 criteria provided, single submitter clinical testing This sequence change falls in intron 44 of the DYSF gene. It does not directly change the encoded amino acid sequence of the DYSF protein. RNA analysis indicates that this variant induces altered splicing and likely results in the gain of 59 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of DYSF-related disease (PMID: 25493284, 26273692). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 281197). Studies have shown that this variant results in the activation of a cryptic splice site in intron 44 (PMID: 25493284). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469219 SCV004196541 pathogenic Miyoshi muscular dystrophy 1 2023-04-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005031850 SCV005659329 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2024-03-16 criteria provided, single submitter clinical testing
Counsyl RCV000591407 SCV000791208 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-05-04 no assertion criteria provided clinical testing

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