ClinVar Miner

Submissions for variant NM_021830.4(TWNK):c.247C>T (p.Pro83Ser) (rs386834147)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419446 SCV000512430 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing The P83S variant in the C10orf2 gene has been reported previously in an affected individual with a neurodegenerative disorder suggestive of infantile-onset spinocerebellar ataxia who was compound heterozygous for the P83S variant and another missense variant (Hartley et al., 2012). The P83S variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P83S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P83S as a variant of uncertain significance.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050141 SCV000082551 probable-pathogenic Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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