ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.140G>A (p.Gly47Glu)

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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 RCV004411909 SCV004894808 uncertain significance Inborn genetic diseases 2023-11-27 criteria provided, single submitter clinical testing The c.140G>A (p.G47E) alteration is located in exon 2 (coding exon 2) of the KMT2D gene. This alteration results from a G to A substitution at nucleotide position 140, causing the glycine (G) at amino acid position 47 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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