ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2246T>G (p.Phe749Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002909986 SCV003264704 uncertain significance Holocarboxylase synthetase deficiency 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 602 of the HLCS protein (p.Phe602Cys). 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 missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 2055202). 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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