ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.9040G>C (p.Gly3014Arg)

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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 RCV004644276 SCV005133487 uncertain significance Inborn genetic diseases 2024-04-19 criteria provided, single submitter clinical testing The c.9040G>C (p.G3014R) alteration is located in exon 38 (coding exon 38) of the KMT2C gene. This alteration results from a G to C substitution at nucleotide position 9040, causing the glycine (G) at amino acid position 3014 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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