ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.119G>A (p.Arg40His)

gnomAD frequency: 0.00001  dbSNP: rs549309216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815647 SCV000956108 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 40 of the TPP1 protein (p.Arg40His). This variant is present in population databases (rs549309216, gnomAD 0.02%). 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: 658762). 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.
PreventionGenetics, part of Exact Sciences RCV003908105 SCV004726013 uncertain significance TPP1-related condition 2024-02-22 criteria provided, single submitter clinical testing The TPP1 c.119G>A variant is predicted to result in the amino acid substitution p.Arg40His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001274546 SCV001458797 uncertain significance Neuronal ceroid lipofuscinosis 2 2020-04-14 no assertion criteria provided clinical testing

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