ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)

gnomAD frequency: 0.00001  dbSNP: rs746043871
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179745 SCV000232044 uncertain significance not provided 2015-02-23 criteria provided, single submitter clinical testing
Counsyl RCV000670818 SCV000795722 uncertain significance Neuronal ceroid lipofuscinosis 1 2017-11-13 criteria provided, single submitter clinical testing
Invitae RCV000670818 SCV001202337 pathogenic Neuronal ceroid lipofuscinosis 1 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 241 of the PPT1 protein (p.Ser241Leu). This variant is present in population databases (rs746043871, gnomAD 0.01%). This missense change has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 22387303, 23374165; Invitae). ClinVar contains an entry for this variant (Variation ID: 198413). 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 PPT1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000670818 SCV004100702 likely pathogenic Neuronal ceroid lipofuscinosis 1 2023-09-19 criteria provided, single submitter clinical testing Criteria applied: PS4_MOD,PM1,PM2_SUP,PP3
Baylor Genetics RCV000670818 SCV004204146 likely pathogenic Neuronal ceroid lipofuscinosis 1 2023-08-17 criteria provided, single submitter clinical testing

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