ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3521A>C (p.Gln1174Pro)

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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 RCV004989839 SCV005613074 uncertain significance Inborn genetic diseases 2024-08-05 criteria provided, single submitter clinical testing The c.3521A>C (p.Q1174P) alteration is located in exon 30 (coding exon 30) of the KCNT1 gene. This alteration results from a A to C substitution at nucleotide position 3521, causing the glutamine (Q) at amino acid position 1174 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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