ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.1665G>T (p.Met555Ile)

dbSNP: rs552470432
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227589 SCV002506626 uncertain significance Kleefstra syndrome 2 2021-04-23 criteria provided, single submitter clinical testing The heterozygous c.1665G>T (p.Met555Ile) variant identified in the KMT2C gene substitutes a moderately conserved Methionine for Isoleucine at amino acid 555/4912 (exon 12/59). This variant is absent from gnomAD(v2.1.1) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Tolerated (SIFT; score:0.354) and Benign (REVEL; score:0.133) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Met555 residue is not within a mapped domain of KMT2C (UniProtKB:Q8NEZ4). Given the lack of compelling evidence for its pathogenicity, the c.1665G>T (p.Met555Ile) variant identified in the KMT2C gene is reported as a Variant of Uncertain Significance.

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