ClinVar Miner

Submissions for variant NM_139137.4(KCNC2):c.833C>T (p.Thr278Met)

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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 RCV004636048 SCV005122487 uncertain significance Inborn genetic diseases 2024-04-19 criteria provided, single submitter clinical testing The c.833C>T (p.T278M) alteration is located in exon 3 (coding exon 2) of the KCNC2 gene. This alteration results from a C to T substitution at nucleotide position 833, causing the threonine (T) at amino acid position 278 to be replaced by a methionine (M). Based on data from gnomAD, the T allele has an overall frequency of 0.002% (4/250888) total alleles studied. The highest observed frequency was 0.006% (1/16252) of African alleles. This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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