ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.8626del (p.Gln2876fs) (rs1565789104)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Carola Vinuesa Lab,John Curtin School of Medical Research RCV000754083 SCV000787622 pathogenic Complement component c1s deficiency criteria provided, single submitter research Null variant: frame-shift, truncating mutation in a gene where loss of function is a known mechanism of disease, de novo mutation in a patient with no family history, paternity and maternity confirmed through analysis of rare variants and Mendelian conflicts in WES data, novel variant absent from controls, patient's phenotype consistent with Kabuki syndrome (the patient also has SLE). Meets ACMG criteria for pathogenicity.

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