ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.262C>A (p.Gln88Lys)

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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 RCV004984150 SCV005613632 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.262C>A (p.Q88K) alteration is located in exon 3 (coding exon 3) of the KMT2C gene. This alteration results from a C to A substitution at nucleotide position 262, causing the glutamine (Q) at amino acid position 88 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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