ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.4644G>T (p.Leu1548Phe)

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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 RCV005368579 SCV006018144 uncertain significance Inborn genetic diseases 2025-02-25 criteria provided, single submitter clinical testing The c.4644G>T (p.L1548F) alteration is located in exon 31 (coding exon 31) of the KMT2C gene. This alteration results from a G to T substitution at nucleotide position 4644, causing the leucine (L) at amino acid position 1548 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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