ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)

gnomAD frequency: 0.00002  dbSNP: rs773546205
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189770 SCV000243418 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TPP1 gene. The S213L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S213L variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server. The S213L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000189770 SCV001009724 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001274540 SCV001736765 uncertain significance Neuronal ceroid lipofuscinosis 2 2021-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001274540 SCV001806168 uncertain significance Neuronal ceroid lipofuscinosis 2 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578829 SCV001806169 uncertain significance Autosomal recessive spinocerebellar ataxia 7 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274540 SCV001458790 uncertain significance Neuronal ceroid lipofuscinosis 2 2020-05-20 no assertion criteria provided clinical testing

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