ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) (rs386833655)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049615 SCV000486751 likely pathogenic Neuronal ceroid lipofuscinosis 1 2016-08-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731854 SCV000859710 pathogenic not provided 2018-03-02 criteria provided, single submitter clinical testing
Invitae RCV000049615 SCV001229728 likely pathogenic Neuronal ceroid lipofuscinosis 1 2019-11-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 184 of the PPT1 protein (p.Glu184Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs386833655, ExAC 0.02%). This variant has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 9664077, 17044973, 10679943). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 56204). This variant has been reported to affect PPT1 protein function (PMID: 11440996). 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) RCV000049615 SCV000082022 probable-pathogenic Neuronal ceroid lipofuscinosis 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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