ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.745T>A (p.Ser249Thr)

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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 RCV004989689 SCV005603953 uncertain significance Inborn genetic diseases 2024-08-02 criteria provided, single submitter clinical testing The c.745T>A (p.S249T) alteration is located in exon 2 (coding exon 1) of the KANSL1 gene. This alteration results from a T to A substitution at nucleotide position 745, causing the serine (S) at amino acid position 249 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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