ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter) (rs1558613592)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785919 SCV000924497 likely pathogenic Limb-girdle muscular dystrophy, type 2B 2018-06-15 criteria provided, single submitter research The heterozygous p.Gln1331Ter variant was identified by our study in one individual with limb-girdle muscular dystrophy. This variant was absent from large population studies and computational prediction tools suggest that this variant may impact the protein. Loss of function of the DYSF gene is an established disease mechanism in autosomal recessive limb-girdle muscular dystrophy, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.

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