ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.5915C>A (p.Pro1972His)

gnomAD frequency: 0.00003  dbSNP: rs147274805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002871016 SCV003224251 likely benign not provided 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002846947 SCV003636805 uncertain significance Inborn genetic diseases 2022-09-07 criteria provided, single submitter clinical testing The c.5915C>A (p.P1972H) alteration is located in exon 36 (coding exon 36) of the KMT2C gene. This alteration results from a C to A substitution at nucleotide position 5915, causing the proline (P) at amino acid position 1972 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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