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: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000669246 SCV002110730 pathogenic Holocarboxylase synthetase deficiency 2022-07-13 criteria provided, single submitter clinical testing 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). This variant is present in population databases (rs766163167, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. ClinVar contains an entry for this variant (Variation ID: 553733). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000669246 SCV004199866 likely pathogenic Holocarboxylase synthetase deficiency 2024-02-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000669246 SCV005664087 likely pathogenic Holocarboxylase synthetase deficiency 2024-04-22 criteria provided, single submitter clinical testing

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