ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Invitae RCV001050424 SCV001214531 pathogenic Neuronal ceroid lipofuscinosis 2019-04-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn313Argfs*15) in the TPP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TPP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 280248). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in TPP1 are known to be pathogenic (PMID: 10330339). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000411972 SCV000485599 likely pathogenic Ceroid lipofuscinosis neuronal 2 2016-01-12 no assertion criteria provided clinical testing

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