ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) (rs386833639)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049598 SCV000800701 uncertain significance Neuronal ceroid lipofuscinosis 1 2018-04-25 criteria provided, single submitter clinical testing
Invitae RCV000049598 SCV001415148 uncertain significance Neuronal ceroid lipofuscinosis 1 2019-08-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 91 of the PPT1 protein (p.Gln91Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs386833639, ExAC 0.02%). This variant has been observed in individuals affected with neuronal ceroid lipofuscinosis (PMID: 17044973, Invitae). 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: 56187). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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) RCV000049598 SCV000082005 probable-pathogenic Neuronal ceroid lipofuscinosis 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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