ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.506T>C (p.Ile169Thr)

gnomAD frequency: 0.00003  dbSNP: rs777546233
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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 of Leipzig Medical Center RCV001253366 SCV001429043 uncertain significance EAST syndrome 2018-11-19 criteria provided, single submitter clinical testing This variant was identified as homozygous
Ambry Genetics RCV002348850 SCV002645942 uncertain significance Inborn genetic diseases 2018-01-16 criteria provided, single submitter clinical testing The p.I169T variant (also known as c.506T>C), located in coding exon 1 of the KCNJ10 gene, results from a T to C substitution at nucleotide position 506. The isoleucine at codon 169 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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