ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)

gnomAD frequency: 0.00024  dbSNP: rs201034755
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189787 SCV000243435 uncertain significance not provided 2024-06-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000189787 SCV000816776 likely benign not provided 2024-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764997 SCV000896180 uncertain significance Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381645 SCV002694252 uncertain significance Inborn genetic diseases 2018-12-03 criteria provided, single submitter clinical testing The p.T427M variant (also known as c.1280C>T), located in coding exon 11 of the TPP1 gene, results from a C to T substitution at nucleotide position 1280. The threonine at codon 427 is replaced by methionine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252368 SCV001428123 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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