ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)

dbSNP: rs1601802008
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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 RCV001343560 SCV001537548 uncertain significance Holocarboxylase synthetase deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 264 of the HLCS protein (p.His264Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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