ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.5404C>T (p.Pro1802Ser)

dbSNP: rs1425340331
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV002221425 SCV002498696 uncertain significance Kleefstra syndrome 2 2021-08-10 criteria provided, single submitter clinical testing This sequence change is predicted to replace proline with serine at codon 1802 of the KMT2C protein (p.(Pro1802Ser)). The proline residue is moderately conserved (100 vertebrates, UCSC), and is not located in a know functional domain. There is a moderate physicochemical difference between proline and serine. The variant is absent in a large population cohort (gnomAD v2.1 and v3.1), and has not been reported in the relevant medical literature or databases. Multiple lines of computational evidence have conflicting predictions for the missense substitution (3/6 algorithms predict deleterious). Based on the classification scheme RMH Modified ACMG Guidelines v1.4.0, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PM2_Supporting.

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