ClinVar Miner

Submissions for variant NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys)

gnomAD frequency: 0.00005  dbSNP: rs606231453
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000148346 SCV004806303 uncertain significance Spinocerebellar ataxia type 21 2024-03-25 criteria provided, single submitter clinical testing
GeneDx RCV004719715 SCV005325225 uncertain significance not provided 2024-02-08 criteria provided, single submitter clinical testing Published functional studies suggest this variant impairs dendritic development and exhibits progressive motor impairment; however, this variant does not appear to have an effect on expression pattern, morphology, or subcellular location (PMID: 30184469, 34157318); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34401960, 34157318, 30184469, 25070513)
OMIM RCV000148346 SCV000195810 pathogenic Spinocerebellar ataxia type 21 2014-10-01 no assertion criteria provided literature only

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