Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000001931 | SCV003525033 | pathogenic | D-2-hydroxyglutaric aciduria 1 | 2022-08-23 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with D-2-hydroxyglutaric aciduria (PMID: 16081310). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1857). This variant is also known as c.326–327dupTC, p.Glu110ArgfsX19. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Glu110Argfs*18) in the D2HGDH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in D2HGDH are known to be pathogenic (PMID: 16081310, 20020533, 21384162). |
OMIM | RCV000001931 | SCV000022089 | pathogenic | D-2-hydroxyglutaric aciduria 1 | 2005-09-01 | no assertion criteria provided | literature only |