ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)

gnomAD frequency: 0.00014  dbSNP: rs147678255
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000711566 SCV000334615 uncertain significance not provided 2015-09-01 criteria provided, single submitter clinical testing
Invitae RCV000689268 SCV000816910 likely benign Qualitative or quantitative defects of dysferlin 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711566 SCV000841945 uncertain significance not provided 2018-03-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000689268 SCV001298484 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000711566 SCV001714592 uncertain significance not provided 2019-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000711566 SCV001982087 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000711566 SCV003830935 uncertain significance not provided 2020-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278732 SCV004003755 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.5159G>A (p.R1720H) alteration is located in exon 46 (coding exon 46) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 5159, causing the arginine (R) at amino acid position 1720 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274852 SCV001459369 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-17 no assertion criteria provided clinical testing

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