ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.708_712delinsAGA (p.Pro238fs)

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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 RCV002281758 SCV002572119 likely pathogenic Neuronal ceroid lipofuscinosis 2022-08-02 criteria provided, single submitter clinical testing Variant summary: PPT1 c.708_712delinsAGA (p.Pro238CysfsX56) 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. Truncation downstream of this position is associated with Neuronal ceroid lipofuscinosis, late infantile in HGMD. The variant was absent in 251398 control chromosomes (gnomAD). To our knowledge, no occurrence of c.708_712delinsAGA in individuals affected with Neuronal Ceroid-Lipofuscinosis (Batten Disease) and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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