ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.455del (p.Cys152fs) (rs886041568)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000356077 SCV000330249 pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing The c.455delG pathogenic variant in the PPT1 gene has not been reported previously as a pathogenicvariant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codonCysteine 152, changes this amino acid to a Serine residue, and creates a premature Stop codon atposition 16 of the new reading frame, denoted p.Cys152SerfsX16. This variant is predicted to causeloss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.The c.455delG variant was not observed in approximately 6500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. We interpret c.455delG as a pathogenic variant.
Counsyl RCV000984304 SCV001132476 likely pathogenic Ceroid lipofuscinosis neuronal 1 2015-02-11 no assertion criteria provided clinical testing

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