ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.8740C>T (p.Arg2914Ter)

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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 RCV003330465 SCV004039477 pathogenic Alkuraya-Kucinskas syndrome 2023-08-14 criteria provided, single submitter clinical testing Variant summary: KIAA1109 c.8740C>T (p.Arg2914X) 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 was absent in 249392 control chromosomes (gnomAD). To our knowledge, no occurrence of c.8740C>T in individuals affected with Alkuraya-Kucinskas Syndrome 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 after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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