ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)

dbSNP: rs119455958
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000002767 SCV000791297 likely pathogenic Neuronal ceroid lipofuscinosis 2 2017-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851588 SCV002128614 pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 286 of the TPP1 protein (p.Asn286Ser). This variant is present in population databases (rs119455958, gnomAD 0.0009%). This missense change has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 12376936, 30541466). ClinVar contains an entry for this variant (Variation ID: 2648). 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 expected to disrupt TPP1 protein function. Experimental studies have shown that this missense change affects TPP1 function (PMID: 14736728, 15317752, 20340139). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002767 SCV000022925 pathogenic Neuronal ceroid lipofuscinosis 2 2004-04-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000002767 SCV000091201 not provided Neuronal ceroid lipofuscinosis 2 no assertion provided not provided

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