ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001301684 SCV001490861 uncertain significance Holocarboxylase synthetase deficiency 2020-09-08 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 624 of the HLCS protein (p.His624Gln). 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 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.

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