ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)

dbSNP: rs766341386
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517136 SCV000613201 pathogenic not provided 2023-03-21 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with Miyoshi muscular dystrophy and in at least one individual with clinical features associated with limb-girdle muscular dystrophy.
Invitae RCV000689015 SCV000816650 pathogenic Qualitative or quantitative defects of dysferlin 2022-08-25 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with Miyoshi myopathy and limb-girdle muscular dystrophy (PMID: 18853459, 19528035, 26916285, 27447704). This variant is present in population databases (rs766341386, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ser1173Phefs*2) 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). ClinVar contains an entry for this variant (Variation ID: 370730). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003470334 SCV004194174 pathogenic Miyoshi muscular dystrophy 1 2023-10-16 criteria provided, single submitter clinical testing
Counsyl RCV000410481 SCV000486119 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2016-11-02 no assertion criteria provided clinical testing
Natera, Inc. RCV000410481 SCV002082286 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-05-18 no assertion criteria provided clinical testing

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