ClinVar Miner

Submissions for variant NM_000365.6(TPI1):c.448G>T (p.Val150Phe)

gnomAD frequency: 0.00067  dbSNP: rs150585849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001111126 SCV000884718 uncertain significance Triosephosphate isomerase deficiency 2024-08-07 criteria provided, single submitter clinical testing The TPI1 c.448G>T; p.Val150Phe variant (rs150585849), to our knowledge, is not reported in the medical literature or gene specific databases but is reported in ClinVar (Variation ID: 618439). This variant is found in the general population with an allele frequency of 0.05% (149/282,790 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.371).Due to limited information, the clinical significance of this variant is uncertain at this time.
Illumina Laboratory Services, Illumina RCV001111126 SCV001268642 uncertain significance Triosephosphate isomerase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001869026 SCV002123358 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 150 of the TPI1 protein (p.Val150Phe). This variant is present in population databases (rs150585849, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TPI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 618439). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Revvity Omics, Revvity RCV001111126 SCV003827844 uncertain significance Triosephosphate isomerase deficiency 2023-05-08 criteria provided, single submitter clinical testing

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