ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.281T>C (p.Ile94Thr)

gnomAD frequency: 0.00002  dbSNP: rs1452290404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317458 SCV000850835 uncertain significance Inborn genetic diseases 2017-02-15 criteria provided, single submitter clinical testing The p.I94T variant (also known as c.281T>C), located in coding exon 3 of the HDAC8 gene, results from a T to C substitution at nucleotide position 281. The isoleucine at codon 94 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002533046 SCV002996316 likely benign Cornelia de Lange syndrome 5 2022-08-08 criteria provided, single submitter clinical testing

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