ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) (rs144636654)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725533 SCV000337583 uncertain significance not provided 2015-11-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367959 SCV000431775 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403556 SCV000431776 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000176738 SCV000583084 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DYSF gene. The M968L variant was reported previously in a compound heterozygous patient with complete dysferlin deficiency. Functional studies were not completed for M968L alone, and therefore its contribution to the phenotype is unclear (Kesari et al., 2008). The M968L variant is observed in 149/65724 (0.2%) alleles from individuals of European background, (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M968L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Athena Diagnostics Inc RCV000176738 SCV000613196 uncertain significance not specified 2016-12-09 criteria provided, single submitter clinical testing
Invitae RCV000725533 SCV000649644 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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