ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.12142T>G (p.Ser4048Ala)

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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 RCV005352889 SCV006018148 uncertain significance Inborn genetic diseases 2025-02-26 criteria provided, single submitter clinical testing The c.12142T>G (p.S4048A) alteration is located in exon 48 (coding exon 48) of the KMT2C gene. This alteration results from a T to G substitution at nucleotide position 12142, causing the serine (S) at amino acid position 4048 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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