ClinVar Miner

Submissions for variant NM_201599.3(ZMYM3):c.4029G>T (p.Met1343Ile)

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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 RCV004698782 SCV005200103 uncertain significance Intellectual developmental disorder, X-linked 112 2024-08-23 criteria provided, single submitter clinical testing A hemizygous missense variation in exon 25 of the ZMYM3 gene that results in the amino acid substitution of Isoleucine for Methionine at codon 1343 was detected. The observed variant c.4029G>T (p.Met1343lle) has not been reported in the 1000 genomes, gnomAD (v3.1), gnomAD (v2.1), topmed and our internal databases. The in silico prediction of the variant is damaging by SIFT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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