ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003084158 SCV003469693 uncertain significance Holocarboxylase synthetase deficiency 2021-11-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 285 of the HLCS protein (p.Leu285Ser). This variant is present in population databases (rs373572167, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt HLCS protein function. 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.
Ambry Genetics RCV004985170 SCV005599753 uncertain significance Inborn genetic diseases 2024-07-06 criteria provided, single submitter clinical testing The c.854T>C (p.L285S) alteration is located in exon 5 (coding exon 2) of the HLCS gene. This alteration results from a T to C substitution at nucleotide position 854, causing the leucine (L) at amino acid position 285 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.