ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)

gnomAD frequency: 0.00024  dbSNP: rs149768871
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
Eurofins Ntd Llc (ga) RCV000306735 SCV000338894 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338437 SCV000431832 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000406757 SCV000431833 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001055238 SCV001219616 likely benign Qualitative or quantitative defects of dysferlin 2024-01-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001055238 SCV001298024 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.
GeneDx RCV000306735 SCV001875107 uncertain significance not provided 2021-07-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24438169, 25868377, 27535533)
Ambry Genetics RCV002519192 SCV003583543 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.4663C>T (p.P1555S) alteration is located in exon 43 (coding exon 43) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 4663, causing the proline (P) at amino acid position 1555 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000306735 SCV003830870 uncertain significance not provided 2019-02-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833354 SCV002082341 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-11-11 no assertion criteria provided clinical testing

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.