ClinVar Miner

Submissions for variant NM_016284.5(CNOT1):c.608T>C (p.Ile203Thr)

dbSNP: rs2151984285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002254890 SCV002526118 likely pathogenic See cases 2022-05-11 criteria provided, single submitter clinical testing ACMG categories: PS2,PM1,PM2
Neuberg Centre For Genomic Medicine, NCGM RCV004555634 SCV005044763 uncertain significance Vissers-Bodmer syndrome criteria provided, single submitter clinical testing The missense c.608T>C p.Ile203Thr variant in gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ile203Thr variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Likely Pathogenic. The amino acid change p.Ile203Thr in CNOT1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ile at position 203 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. Functional studies are required to prove the pathogenicity for the variant, for these reasons, this variant has been classified as Variant of Uncertain Significance VUS.

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