ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.8738G>A (p.Gly2913Glu)

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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 RCV004984153 SCV005613635 uncertain significance Inborn genetic diseases 2024-10-04 criteria provided, single submitter clinical testing The c.8738G>A (p.G2913E) alteration is located in exon 38 (coding exon 38) of the KMT2C gene. This alteration results from a G to A substitution at nucleotide position 8738, causing the glycine (G) at amino acid position 2913 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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