ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu)

gnomAD frequency: 0.00001  dbSNP: rs759396333
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415893 SCV000493204 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002521466 SCV003458625 uncertain significance Holocarboxylase synthetase deficiency 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 30 of the HLCS protein (p.Lys30Glu). This variant is present in population databases (rs759396333, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. ClinVar contains an entry for this variant (Variation ID: 374458). 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.
Breakthrough Genomics, Breakthrough Genomics RCV000415893 SCV005195131 uncertain significance not provided criteria provided, single submitter not provided

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