ClinVar Miner

Submissions for variant NM_001287491.2(TET3):c.2873G>A (p.Cys958Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005294440 SCV005954833 likely pathogenic Inborn genetic diseases 2024-12-23 criteria provided, single submitter clinical testing The c.2468G>A (p.C823Y) alteration is located in exon 4 (coding exon 4) of the TET3 gene. This alteration results from a G to A substitution at nucleotide position 2468, causing the cysteine (C) at amino acid position 823 to be replaced by a tyrosine (Y). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.

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