ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2231C>T (p.Thr744Ile)

gnomAD frequency: 0.00001  dbSNP: rs1359060187
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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 RCV002317520 SCV000850951 uncertain significance Inborn genetic diseases 2016-02-09 criteria provided, single submitter clinical testing The p.T744I variant (also known as c.2231C>T), located in coding exon 17 of the CHD2 gene, results from a C to T substitution at nucleotide position 2231. The threonine at codon 744 is replaced by isoleucine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6495 samples (12990 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of p.T744I remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001492222 SCV001696829 likely benign Developmental and epileptic encephalopathy 94 2018-09-26 criteria provided, single submitter clinical testing

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