ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)

gnomAD frequency: 0.00001  dbSNP: rs1260631800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055711 SCV001220115 uncertain significance Holocarboxylase synthetase deficiency 2022-04-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 709 of the HLCS protein (p.Pro709Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with holocarboxylase synthetase deficiency (PMID: 27604308). ClinVar contains an entry for this variant (Variation ID: 851334). 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 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.
Baylor Genetics RCV001055711 SCV004199829 likely pathogenic Holocarboxylase synthetase deficiency 2023-09-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001055711 SCV002095586 uncertain significance Holocarboxylase synthetase deficiency 2020-08-16 no assertion criteria provided clinical testing

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