ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.7187C>T (p.Pro2396Leu)

dbSNP: rs754166338
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV003458965 SCV004176957 uncertain significance Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68 2023-07-10 criteria provided, single submitter clinical testing The KMT2B c.7187C>T (p.Pro2396Leu) variant, to our knowledge, has not been reported in the medical literature and is only observed on 1/249,096 alleles in the general population (gnomAD v.2.1.1), indicating it is not a common variant. The amino acid at this position does not occur in a known functional domain and computational predictors suggest that the variant does not impact KMT2B function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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