ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) (rs139754493)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487642 SCV000338018 uncertain significance not provided 2015-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292466 SCV000431745 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328757 SCV000431746 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487642 SCV000575214 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000487642 SCV000581854 likely pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing The K656E variant has been reported previously, using alternative nomenclature, in a compound heterozygous individual with Miyoshi myopathy; however, additional information was not provided on the proband and functional characterization and segregation analysis were not completed (Pavoni et al., 2011). It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, nor was it observed with any significant frequency in the 1000 Genomes Project. The K656E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Athena Diagnostics Inc RCV000176201 SCV000613188 uncertain significance not specified 2017-03-22 criteria provided, single submitter clinical testing
Invitae RCV000487642 SCV000649620 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing

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