Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000208711 | SCV000797147 | likely pathogenic | Mitochondrial DNA depletion syndrome 1 | 2018-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001266751 | SCV001444928 | pathogenic | Inborn genetic diseases | 2018-03-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515561 | SCV003444350 | pathogenic | not provided | 2023-08-16 | criteria provided, single submitter | clinical testing | Disruption of this splice site has been observed in individual(s) with mitochondrial neurogastrointestinal encephalomyopathy (PMID: 19056268). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 9 of the TYMP gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is also known as g.4009G>A. ClinVar contains an entry for this variant (Variation ID: 223069). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that disruption of this splice site results in skipping of exon 9, but is expected to preserve the integrity of the reading-frame (PMID: 19056268). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000208711 | SCV004207518 | pathogenic | Mitochondrial DNA depletion syndrome 1 | 2023-05-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000208711 | SCV000264551 | pathogenic | Mitochondrial DNA depletion syndrome 1 | 2016-01-14 | no assertion criteria provided | literature only | |
Natera, |
RCV001828047 | SCV002081614 | pathogenic | Mitochondrial neurogastrointestinal encephalomyopathy | 2021-06-25 | no assertion criteria provided | clinical testing |