ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) (rs141137410)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000493108 SCV000342797 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310014 SCV000431840 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362344 SCV000431841 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000493108 SCV000581999 likely pathogenic not provided 2015-08-11 criteria provided, single submitter clinical testing The A1676S variant in the DYSF gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The A1676S variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common variant in these populations. The A1676S variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (C1678S, C1678R, C1678Y, G1679E) have been reported in the Human Gene Mutation Database in association with DYSF related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. The A1676S variant is a strong candidate for a disease-causing variant, however the possibility it may be a rare benign variant cannot be excluded.
Athena Diagnostics Inc RCV000388999 SCV000613212 uncertain significance not specified 2017-02-15 criteria provided, single submitter clinical testing
Invitae RCV001079670 SCV000769849 likely benign Qualitative or quantitative defects of dysferlin 2019-12-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000493108 SCV000927748 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
Mendelics RCV000986770 SCV001135890 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001079670 SCV001298482 uncertain significance Qualitative or quantitative defects of dysferlin 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.