ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.10097C>T (p.Ala3366Val)

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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 RCV004984141 SCV005613621 uncertain significance Inborn genetic diseases 2024-08-27 criteria provided, single submitter clinical testing The c.10097C>T (p.A3366V) alteration is located in exon 43 (coding exon 43) of the KMT2C gene. This alteration results from a C to T substitution at nucleotide position 10097, causing the alanine (A) at amino acid position 3366 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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