ClinVar Miner

Submissions for variant NM_018255.4(ELP2):c.418C>T (p.Arg140Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689465 SCV005185598 pathogenic Intellectual disability, autosomal recessive 58 2024-05-17 criteria provided, single submitter clinical testing Variant summary: ELP2 c.418C>T (p.Arg140X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 2.4e-05 in 251406 control chromosomes. To our knowledge, no occurrence of c.418C>T in individuals affected with Mental Retardation, Autosomal Recessive 58 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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