ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.4160C>T (p.Ser1387Leu)

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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 RCV005352888 SCV006018145 uncertain significance Inborn genetic diseases 2025-02-25 criteria provided, single submitter clinical testing The c.4160C>T (p.S1387L) alteration is located in exon 27 (coding exon 27) of the KMT2C gene. This alteration results from a C to T substitution at nucleotide position 4160, causing the serine (S) at amino acid position 1387 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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