ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) (rs2303606)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000080282 SCV000112177 benign not specified 2015-04-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000080282 SCV000269056 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ile1354Ile in exon 38 of DYSF: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 48.9% (4208/8600) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2303606).
PreventionGenetics,PreventionGenetics RCV000080282 SCV000309683 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382443 SCV000431810 benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288114 SCV000431811 benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000080282 SCV000519292 benign not specified 2016-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000711560 SCV000841939 benign not provided 2017-03-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001140151 SCV001300372 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001140151 SCV001729445 benign Qualitative or quantitative defects of dysferlin 2020-12-04 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001527262 SCV001738220 benign Miyoshi muscular dystrophy 1 2021-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080282 SCV000151028 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001271533 SCV001452764 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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