ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1002+4A>G

dbSNP: rs905322985
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001072066 SCV001237409 pathogenic Qualitative or quantitative defects of dysferlin 2023-12-25 criteria provided, single submitter clinical testing This sequence change falls in intron 9 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 a shortened protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with dysferlinopathy (PMID: 21522182, 33715265). ClinVar contains an entry for this variant (Variation ID: 864798). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of 9, but is expected to preserve the integrity of the reading-frame (PMID: 21522182). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002480447 SCV002787510 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-10-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462626 SCV004196502 pathogenic Miyoshi muscular dystrophy 1 2023-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828532 SCV002079781 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-08-27 no assertion criteria provided clinical testing

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