ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del) (rs386833637)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049596 SCV000485992 likely pathogenic Neuronal ceroid lipofuscinosis 1 2016-03-15 criteria provided, single submitter clinical testing
Invitae RCV000049596 SCV000946441 likely pathogenic Neuronal ceroid lipofuscinosis 1 2019-01-04 criteria provided, single submitter clinical testing This variant, c.255_257delCTT, results in the deletion of 1 amino acid(s) of the PPT1 protein (p.Phe85del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in multiple individuals affected with PPT1-related disorders (PMID: 10649502, 10679943, 11589012). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c252-254delCTT and c249-251delCTT in the literature. ClinVar contains an entry for this variant (Variation ID: 56185). This variant has been reported to affect PPT1 protein function (PMID:11520175, 17565660). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049596 SCV000082003 probable-pathogenic Neuronal ceroid lipofuscinosis 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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