ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)

gnomAD frequency: 0.00016  dbSNP: rs143059463
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670528 SCV000795390 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-11-07 criteria provided, single submitter clinical testing
Invitae RCV001247777 SCV001421220 likely benign Qualitative or quantitative defects of dysferlin 2024-01-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507566 SCV001713188 uncertain significance not provided 2019-12-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271559 SCV002556141 uncertain significance not specified 2022-06-02 criteria provided, single submitter clinical testing Variant summary: DYSF c.4985C>T (p.Thr1662Met) results in a non-conservative amino acid change located in one of the C2 repeat domains (IPR000008) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00012 in 282882 control chromosomes in the gnomAD database, including 1 homozygote. This frequency is not higher than the estimated maximum expected for a pathogenic variant in DYSF causing Limb-Girdle Muscular Dystrophy, Autosomal Recessive (0.0031), allowing no conclusion about variant significance. c.4985C>T has been reported in the literature in compound heterozygous state (with a VUS in trans) in an individual with suspected Limb-Girdle Muscular Dystrophy (Yu_2017, Zhong_2021), and in heterozygous state in an individual with myalgia (Bevilacqua_2020 through LOVD). These reports do not provide unequivocal conclusions about association of the variant with Limb-Girdle Muscular Dystrophy, Autosomal Recessive. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002477502 SCV002777250 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-08-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670528 SCV002082357 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-27 no assertion criteria provided clinical testing

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