ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.91G>C (p.Ala31Pro)

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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 RCV005368568 SCV006024805 uncertain significance Inborn genetic diseases 2025-01-18 criteria provided, single submitter clinical testing The c.91G>C (p.A31P) alteration is located in exon 1 (coding exon 1) of the KMT2C gene. This alteration results from a G to C substitution at nucleotide position 91, causing the alanine (A) at amino acid position 31 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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