ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)

gnomAD frequency: 0.00009  dbSNP: rs199649417
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648015 SCV000769825 likely benign Qualitative or quantitative defects of dysferlin 2024-01-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222581 SCV002500221 uncertain significance not specified 2022-03-08 criteria provided, single submitter clinical testing Variant summary: DYSF c.5492C>T (p.Thr1831Met) results in a non-conservative amino acid change located in one of the C2 domains (IPR000008) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 7e-05 in 244432 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in DYSF causing Limb-Girdle Muscular Dystrophy, Autosomal Recessive (7e-05 vs 0.0031), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.5492C>T in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, and both of them classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV003144430 SCV003831327 uncertain significance not provided 2021-11-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276864 SCV001463479 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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