ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)

gnomAD frequency: 0.00012  dbSNP: rs199879861
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000330051 SCV000335551 uncertain significance not provided 2015-09-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361672 SCV000431718 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269469 SCV000431719 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000525084 SCV000649605 likely benign Qualitative or quantitative defects of dysferlin 2023-12-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000525084 SCV001300836 uncertain significance Qualitative or quantitative defects of dysferlin 2018-01-12 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.
Revvity Omics, Revvity RCV000330051 SCV003830876 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274442 SCV001458643 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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