ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.446A>G (p.Asp149Gly)

gnomAD frequency: 0.00002  dbSNP: rs377103841
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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 RCV002050762 SCV002111713 likely benign not provided 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004988787 SCV005613650 uncertain significance Inborn genetic diseases 2024-11-10 criteria provided, single submitter clinical testing The c.446A>G (p.D149G) alteration is located in exon 4 (coding exon 4) of the KMT2C gene. This alteration results from a A to G substitution at nucleotide position 446, causing the aspartic acid (D) at amino acid position 149 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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