ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys)

gnomAD frequency: 0.00006  dbSNP: rs377706756
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000358891 SCV000342791 uncertain significance not provided 2016-06-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001140902 SCV001301206 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.
Invitae RCV001140902 SCV001414577 benign Qualitative or quantitative defects of dysferlin 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000358891 SCV001992467 uncertain significance not provided 2019-11-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30564623, 32528171)
Natera, Inc. RCV001833383 SCV002082315 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-20 no assertion criteria provided clinical testing

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