Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199215 | SCV000252398 | pathogenic | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | Non-canonical splice site variant demonstrated to result in loss-of-function (Mayr JA et al., 2011); This variant is associated with the following publications: (PMID: 31288420, 34426522, 31589614, 36175994, 31440721, 33086386, 33231275, 22152682) |
Institute Of Human Genetics Munich, |
RCV000578364 | SCV000680413 | pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000578364 | SCV000960745 | pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 2023-12-06 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 7 of the TPK1 gene. It does not directly change the encoded amino acid sequence of the TPK1 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs375169579, gnomAD 0.02%). This variant has been observed in individual(s) with thiamine pyrophosphokinase deficiency (PMID: 22152682). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 215275). Studies have shown that this variant alters TPK1 gene expression (PMID: 22152682). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 7, but is expected to preserve the integrity of the reading-frame (PMID: 22152682). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000578364 | SCV001520668 | pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 2020-08-12 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV000578364 | SCV002804793 | pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 2021-08-12 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000578364 | SCV000044823 | pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 2011-12-09 | no assertion criteria provided | literature only |