ClinVar Miner

Submissions for variant NM_004287.4(GOSR2):c.22dup (p.Thr8fs) (rs746855352)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000509134 SCV000607039 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.
Invitae RCV000468851 SCV000543669 uncertain significance Progressive myoclonic epilepsy 2018-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 8 (p.Thr8Asnfs*54) of the GOSR2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GOSR2-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GOSR2 cause disease, as the only previously reported pathogenic change is a missense variant (PMID: 23449775, 21549339). Therefore, this variant has been classified as a Variant of Uncertain Significance.

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