ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.4691G>T (p.Gly1564Val)

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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 RCV004984151 SCV005613633 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.4691G>T (p.G1564V) alteration is located in exon 32 (coding exon 32) of the KMT2C gene. This alteration results from a G to T substitution at nucleotide position 4691, causing the glycine (G) at amino acid position 1564 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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