ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)

gnomAD frequency: 0.00031  dbSNP: rs34061568
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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) RCV000725139 SCV000334384 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270967 SCV000431779 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325795 SCV000431780 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000725139 SCV000616703 uncertain significance not provided 2020-12-17 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
Invitae RCV001084284 SCV000769836 benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084284 SCV001297775 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 RCV000725139 SCV001713179 uncertain significance not provided 2020-09-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920053 SCV004734936 benign DYSF-related condition 2020-01-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001272823 SCV001455213 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-12 no assertion criteria provided clinical testing

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