ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.572A>G (p.Lys191Arg)

gnomAD frequency: 0.00001  dbSNP: rs752226674
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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 RCV002778434 SCV003591433 uncertain significance Inborn genetic diseases 2021-12-16 criteria provided, single submitter clinical testing The c.572A>G (p.K191R) 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 572, causing the lysine (K) at amino acid position 191 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005059275 SCV005722724 likely benign not provided 2024-03-11 criteria provided, single submitter clinical testing

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