ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) (rs863223921)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000505784 SCV000251220 uncertain significance not specified 2017-05-15 criteria provided, single submitter clinical testing The N399S variant in the C10orf2 gene has been reported previously, along with a second variant, in association with Perrault syndrome, a C10orf2-related disorder (Oldak et al., 2017; Demain et al., 2016). The N399S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N399S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Asparagine are tolerated across species and is located within the SF4 helicase domain. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret N399S as a variant of uncertain significance.
Institute of Human Genetics,Klinikum rechts der Isar RCV000578276 SCV000680157 pathogenic Infantile onset spinocerebellar ataxia 2017-09-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001105893 SCV001262907 uncertain significance Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000578276 SCV001262908 uncertain significance Infantile onset spinocerebellar ataxia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001105894 SCV001262909 uncertain significance Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001105895 SCV001262910 uncertain significance Autosomal recessive cerebellar ataxia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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