ClinVar Miner

Submissions for variant NM_000365.6(TPI1):c.617G>A (p.Arg206His)

gnomAD frequency: 0.00007  dbSNP: rs782417309
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785054 SCV000923609 uncertain significance Triosephosphate isomerase deficiency 2019-01-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000785054 SCV001270881 uncertain significance Triosephosphate isomerase deficiency 2017-04-28 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.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004696989 SCV005198853 uncertain significance not provided 2023-10-04 criteria provided, single submitter clinical testing

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