ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002307253 SCV002604724 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-12-10 criteria provided, single submitter clinical testing NM_003494.3(DYSF):c.5076G>A(W1692*) is expected to be pathogenic in the context of dysferlinopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in DYSF, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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