ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.8923G>A (p.Val2975Ile)

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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 RCV004984166 SCV005613651 uncertain significance Inborn genetic diseases 2024-11-12 criteria provided, single submitter clinical testing The c.8923G>A (p.V2975I) alteration is located in exon 38 (coding exon 38) of the KMT2C gene. This alteration results from a G to A substitution at nucleotide position 8923, causing the valine (V) at amino acid position 2975 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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