ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) (rs200424447)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725306 SCV000335909 uncertain significance not provided 2015-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000725306 SCV000619080 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing The L1582F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L1582F variant is observed in 47/6,882 (0.68%) alleles from individuals of East Asian background, including 1 homozygous individual in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, 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.
Invitae RCV001088719 SCV001019403 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing

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