ClinVar Miner

Submissions for variant NM_004287.3(GOSR2):c.430G>T (rs387906881)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000023359 SCV000733691 pathogenic Epilepsy, progressive myoclonic 6 no assertion criteria provided clinical testing
GeneDx RCV000478768 SCV000567582 pathogenic not provided 2018-07-03 criteria provided, single submitter clinical testing The G144W variant has been reported previously in individuals with progressive myoclonic epilepsy (Boisse Lomax et al., 2013; Corbett et al., 2011). Functional studies of the G144W variant demonstrate a damaging effect (Praschberger et al., 2017; Volker et al., 2017). The G144W variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret the G144W variant as pathogenic.
GenomeConnect, ClinGen RCV000509417 SCV000607038 not provided Muscular dystrophy 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 RCV000023359 SCV000044650 pathogenic Epilepsy, progressive myoclonic 6 2014-01-01 no assertion criteria provided literature only

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