ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Invitae RCV001068291 SCV001233394 pathogenic Progressive myoclonic epilepsy 2020-01-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with tryptophan at codon 144 of the GOSR2 protein (p.Gly144Trp). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and tryptophan. This variant is present in population databases (rs387906881, ExAC 0.007%). This variant has been observed in individual(s) with progressive myoclonic epilepsy (PMID: 21549339, 23449775). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 30406). This variant has been reported to affect GOSR2 protein function (PMID: 21549339, 28982678). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023359 SCV000044650 pathogenic Epilepsy, progressive myoclonic 6 2014-01-01 no assertion criteria provided literature only
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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000023359 SCV000733691 pathogenic Epilepsy, progressive myoclonic 6 no assertion criteria provided clinical testing

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