ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)

gnomAD frequency: 0.00003  dbSNP: rs141497053
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179859 SCV000232176 likely pathogenic not provided 2015-06-03 criteria provided, single submitter clinical testing
Invitae RCV001852238 SCV002231915 pathogenic Qualitative or quantitative defects of dysferlin 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 234 of the DYSF protein (p.Gly234Glu). This variant is present in population databases (rs141497053, gnomAD 0.01%). This missense change has been observed in individual(s) with DYSF-related conditions (PMID: 17070050, 18853459, 33610434). ClinVar contains an entry for this variant (Variation ID: 198495). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DYSF protein function. For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265663 SCV002548270 pathogenic Autosomal recessive limb-girdle muscular dystrophy 2022-05-18 criteria provided, single submitter clinical testing Variant summary: DYSF c.701G>A (p.Gly234Glu) results in a non-conservative amino acid change in 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 3.6e-05 in 251458 control chromosomes. c.701G>A has been reported in the literature in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive. These data indicate that the variant is likely to be associated with disease. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (Pathogenic n=1, likely pathogenic n=1, VUS n=1). Based on the evidence outlined above, the variant was classified as pathogenic.
Revvity Omics, Revvity Omics RCV000179859 SCV003831991 likely pathogenic not provided 2022-03-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003468872 SCV004194200 pathogenic Miyoshi muscular dystrophy 1 2023-09-26 criteria provided, single submitter clinical testing
Counsyl RCV000984257 SCV001132381 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2016-12-28 no assertion criteria provided clinical testing

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