ClinVar Miner

Submissions for variant NM_001303052.2(MYT1L):c.634G>A (p.Ala212Thr)

gnomAD frequency: 0.00001  dbSNP: rs1277588922
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002272872 SCV002557304 uncertain significance Intellectual disability, autosomal dominant 39 2019-08-28 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_015025.3(MYT1L):c.634G>A in exon 10 of 25 of the MYT1L gene. This substitution is predicted to create a minor amino acid change from alanine to threonine at position 212 of the protein, NP_055840.2(MYT1L):p.(Ala212Thr). The alanine at this position has very high conservation (100 vertebrates, UCSC), but is not situated in a known functional domain. In silico software predicts this variant to be pathogenic (PolyPhen, SIFT, CADD, MutationTaster). The variant is not present in the gnomAD population database. The variant has not previously been reported in clinical cases. Based on information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).
GeneDx RCV003120869 SCV003798924 uncertain significance not provided 2023-02-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV003389079 SCV004101224 uncertain significance Neurodevelopmental disorder 2023-02-06 criteria provided, single submitter clinical testing

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