ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)

gnomAD frequency: 0.00001  dbSNP: rs763927037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001373780 SCV001570512 uncertain significance Holocarboxylase synthetase deficiency 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 310 of the HLCS protein (p.Glu310Lys). This variant is present in population databases (rs763927037, gnomAD 0.02%). This missense change has been observed in individual(s) with holocarboxylase synthetase deficiency (PMID: 19806568). ClinVar contains an entry for this variant (Variation ID: 1063891). 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.
Natera, Inc. RCV001373780 SCV002083737 uncertain significance Holocarboxylase synthetase deficiency 2020-02-13 no assertion criteria provided clinical testing

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