ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002931063 SCV003669606 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.13040C>T (p.P4347L) alteration is located in exon 52 (coding exon 52) of the KMT2C gene. This alteration results from a C to T substitution at nucleotide position 13040, causing the proline (P) at amino acid position 4347 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003126281 SCV003804076 likely benign Autism spectrum disorder 2021-08-13 criteria provided, single submitter clinical testing

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