ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002979119 SCV003288404 uncertain significance Holocarboxylase synthetase deficiency 2022-10-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 14 of the HLCS protein (p.Gln14Glu). This variant is not present in population databases (gnomAD no frequency). 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 not 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 RCV004065110 SCV004882389 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.40C>G (p.Q14E) alteration is located in exon 4 (coding exon 1) of the HLCS gene. This alteration results from a C to G substitution at nucleotide position 40, causing the glutamine (Q) at amino acid position 14 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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