ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.3902C>T (p.Ser1301Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002291520 SCV002583559 uncertain significance Kleefstra syndrome 2 2021-11-20 criteria provided, single submitter research A heterozygous missense variation in exon 25 of the KMT2C gene that results in the amino acid substitution of Phenylalanine for Serine at codon 1301 was detected. The observed variant c.3902C>T (p.Ser1301Phe) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. Segregation analysis showed the variant to be paternal. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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