ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp)

gnomAD frequency: 0.00012  dbSNP: rs200487610
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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) RCV000593115 SCV000702034 uncertain significance not provided 2016-10-14 criteria provided, single submitter clinical testing
Invitae RCV000647988 SCV000769798 likely benign Qualitative or quantitative defects of dysferlin 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000647988 SCV001302996 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.
Ambry Genetics RCV002532373 SCV003684417 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.2539C>T (p.R847W) alteration is located in exon 25 (coding exon 25) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 2539, causing the arginine (R) at amino acid position 847 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000593115 SCV003829629 uncertain significance not provided 2019-05-30 criteria provided, single submitter clinical testing

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