ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.10745A>C (p.Tyr3582Ser)

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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 RCV004984160 SCV005613644 uncertain significance Inborn genetic diseases 2024-10-25 criteria provided, single submitter clinical testing The c.10745A>C (p.Y3582S) alteration is located in exon 43 (coding exon 43) of the KMT2C gene. This alteration results from a A to C substitution at nucleotide position 10745, causing the tyrosine (Y) at amino acid position 3582 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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