ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.2320G>A (p.Ala774Thr)

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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 RCV005352886 SCV006024826 uncertain significance Inborn genetic diseases 2025-01-21 criteria provided, single submitter clinical testing The c.2320G>A (p.A774T) alteration is located in exon 14 (coding exon 14) of the KMT2C gene. This alteration results from a G to A substitution at nucleotide position 2320, causing the alanine (A) at amino acid position 774 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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