ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)

gnomAD frequency: 0.00004  dbSNP: rs766163167
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Total submissions: 3
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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

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