ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) (rs886046632)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429667 SCV000526374 uncertain significance not provided 2016-03-25 criteria provided, single submitter clinical testing The P618L variant in the C10orf2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P618L variant was not observed in approximately 6500 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 P618L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P618L as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000274568 SCV000359939 uncertain significance Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310922 SCV000359940 uncertain significance Ataxia Neuropathy Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365721 SCV000359941 uncertain significance Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271132 SCV000359942 uncertain significance Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing

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