ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.938_939del (p.Asn313fs) (rs886041487)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411972 SCV000485599 likely pathogenic Ceroid lipofuscinosis neuronal 2 2016-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000379065 SCV000330149 pathogenic not provided 2016-01-20 criteria provided, single submitter clinical testing The c.938_939delAT pathogenic variant in the TPP1 gene causes a frameshift starting with codon Asparagine 313,changes this amino acid to an Arginine residue and creates a premature Stop codon at position 15 of the new readingframe, denoted p.Asn313ArgfsX15. This pathogenic variant is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated mRNA decay.

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