ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.739T>C (p.Tyr247His) (rs386833665)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726872 SCV000703755 likely pathogenic not provided 2016-12-22 criteria provided, single submitter clinical testing
Invitae RCV000049625 SCV001387831 uncertain significance Neuronal ceroid lipofuscinosis 1 2019-06-05 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 247 of the PPT1 protein (p.Tyr247His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with neuronal ceroid lipofuscinosis (PMID: 9664077). ClinVar contains an entry for this variant (Variation ID: 56214). This variant has been reported to affect PPT1 protein function (PMID:11440996,29631617). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049625 SCV000082032 probable-pathogenic Neuronal ceroid lipofuscinosis 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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