ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) (rs121908954)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000153183 SCV000309678 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153183 SCV000332041 benign not specified 2015-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000153183 SCV000512918 likely benign not specified 2018-03-06 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 RCV000658868 SCV000613205 benign not provided 2018-09-28 criteria provided, single submitter clinical testing
Invitae RCV000509353 SCV000649673 benign Qualitative or quantitative defects of dysferlin 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658868 SCV000780667 likely benign not provided 2018-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000681611 SCV001135888 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001137897 SCV001297889 uncertain significance DYSF-Related Disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000007049 SCV000027245 pathogenic Miyoshi muscular dystrophy 1 1998-09-01 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000509353 SCV000606886 not provided Qualitative or quantitative defects of dysferlin no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM RCV000681611 SCV000809051 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 1998-09-01 no assertion criteria provided literature only

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