ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1366C>G (p.Leu456Val)

dbSNP: rs386834145
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415948 SCV000493322 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000415948 SCV001987781 uncertain significance not provided 2021-06-16 criteria provided, single submitter clinical testing 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: 22353293, 27535533, 24091712, 24816431, 23510774, 25568878, 24102492, 27551684, 26615986)
PreventionGenetics, part of Exact Sciences RCV004537236 SCV004102936 uncertain significance TWNK-related disorder 2023-08-14 criteria provided, single submitter clinical testing The TWNK c.1366C>G variant is predicted to result in the amino acid substitution p.Leu456Val. This variant has been reported in the homozygous state in two siblings from a consanguineous family with infantile onset spinocerebellar ataxia (Dündar et al. 2012. PubMed ID: 22353293). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050139 SCV000082549 probable-pathogenic Infantile onset spinocerebellar ataxia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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