ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1311G>A (p.Trp437Ter)

dbSNP: rs1949206105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199026 SCV001370021 likely pathogenic Kleefstra syndrome 1 2018-12-12 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Ambry Genetics RCV003163501 SCV003889598 pathogenic Inborn genetic diseases 2023-02-10 criteria provided, single submitter clinical testing The c.1311G>A (p.W437*) alteration, located in exon 8 (coding exon 8) of the EHMT1 gene, consists of a G to A substitution at nucleotide position 1311. This changes the amino acid from a tryptophan (W) to a stop codon at amino acid position 437. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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