Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045143 | SCV001208977 | uncertain significance | Pyruvate dehydrogenase E1-alpha deficiency | 2022-09-18 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 842685). This variant has been observed in individual(s) with pyruvate dehydrogenase E1-alpha (PDHE1α) deficiency (PMID: 28918066). This variant is not present in population databases (gnomAD no frequency). This variant, c.963_977dup, results in the insertion of 5 amino acid(s) of the PDHA1 protein (p.Lys321_Val325dup), but otherwise preserves the integrity of the reading frame. |
Gene |
RCV001546396 | SCV001765905 | uncertain significance | not provided | 2019-12-24 | criteria provided, single submitter | clinical testing | In-frame insertion of 5 amino acids in a non-repeat region; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28918066) |