Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669246 | SCV000793980 | likely pathogenic | Holocarboxylase synthetase deficiency | 2017-09-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000669246 | SCV002110730 | pathogenic | Holocarboxylase synthetase deficiency | 2022-07-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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: 553733). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. This variant is present in population databases (rs766163167, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ser607Lysfs*2) in the HLCS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HLCS are known to be pathogenic (PMID: 16134170). |
Baylor Genetics | RCV000669246 | SCV004199866 | likely pathogenic | Holocarboxylase synthetase deficiency | 2023-02-22 | criteria provided, single submitter | clinical testing |