ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.9364G>A (p.Val3122Met)

dbSNP: rs1244312926
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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 RCV004409836 SCV004894795 uncertain significance Inborn genetic diseases 2023-12-07 criteria provided, single submitter clinical testing The c.9364G>A (p.V3122M) alteration is located in exon 39 (coding exon 39) of the KMT2C gene. This alteration results from a G to A substitution at nucleotide position 9364, causing the valine (V) at amino acid position 3122 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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