ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.13609A>G (p.Ser4537Gly)

gnomAD frequency: 0.00001  dbSNP: rs1354764202
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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 RCV002896255 SCV003642351 uncertain significance Inborn genetic diseases 2022-08-11 criteria provided, single submitter clinical testing The c.13609A>G (p.S4537G) alteration is located in exon 52 (coding exon 52) of the KMT2C gene. This alteration results from a A to G substitution at nucleotide position 13609, causing the serine (S) at amino acid position 4537 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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