ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.489T>G (p.Ile163Met)

dbSNP: rs886057079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000402151 SCV000436064 uncertain significance Holocarboxylase synthetase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000402151 SCV003452571 uncertain significance Holocarboxylase synthetase deficiency 2022-07-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 16 of the HLCS protein (p.Ile16Met). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 339974). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. This variant is not present in population databases (gnomAD no frequency).

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