ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.13925C>G (p.Ala4642Gly)

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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 RCV004984155 SCV005613638 uncertain significance Inborn genetic diseases 2024-10-12 criteria provided, single submitter clinical testing The c.13925C>G (p.A4642G) alteration is located in exon 53 (coding exon 53) of the KMT2C gene. This alteration results from a C to G substitution at nucleotide position 13925, causing the alanine (A) at amino acid position 4642 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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