ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.8597A>C (p.Glu2866Ala)

dbSNP: rs2093232962
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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 RCV002901180 SCV003641452 uncertain significance Inborn genetic diseases 2022-09-14 criteria provided, single submitter clinical testing The c.8597A>C (p.E2866A) alteration is located in exon 38 (coding exon 38) of the KMT2C gene. This alteration results from a A to C substitution at nucleotide position 8597, causing the glutamic acid (E) at amino acid position 2866 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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