Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666237 | SCV000790495 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-03-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763506 | SCV000894296 | likely pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003465448 | SCV004196518 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-06-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004689834 | SCV005185832 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy | 2024-05-14 | criteria provided, single submitter | clinical testing | Variant summary: DYSF c.2974T>C (p.Trp992Arg) results in a non-conservative amino acid change located in the Peroxin/Ferlin domain (Peroxin/Ferlin domain) 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 4e-06 in 251480 control chromosomes. c.2974T>C has been reported in the literature either as homozygous or in the compound heterozygous state with a pathogenic variant in multiple individuals affected with autosomal recessive Limb-Girdle Muscular Dystrophy (e.g. Cho_2006, Takahashi_2013, Izumi_2015, Fernandez-Eulate_2021). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 16891820, 33715265, 27066573, 23243261). ClinVar contains an entry for this variant (Variation ID: 551236). Based on the evidence outlined above, the variant was classified as pathogenic. |