ClinVar Miner

Submissions for variant NM_004287.4(GOSR2):c.203+3A>G (rs201423456)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430511 SCV000517297 benign not specified 2015-09-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000718059 SCV000848920 uncertain significance Seizures 2018-08-31 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000794248 SCV000933642 uncertain significance Progressive myoclonic epilepsy 2018-12-17 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the GOSR2 gene. It does not directly change the encoded amino acid sequence of the GOSR2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs201423456, ExAC 0.04%) but has not been reported in the literature in individuals with a GOSR2-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098) but according to multiple splice site algorithms this particular variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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