ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.78C>A (p.Asp26Glu)

gnomAD frequency: 0.00003  dbSNP: rs760252179
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551985 SCV000628915 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 26 of the TPP1 protein (p.Asp26Glu). This variant is present in population databases (rs760252179, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TPP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 457947). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TPP1 protein function. 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.
Natera, Inc. RCV001829564 SCV002094890 uncertain significance Neuronal ceroid lipofuscinosis 2 2020-12-07 no assertion criteria provided clinical testing

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