ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe)

dbSNP: rs1569216588
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691542 SCV000819327 uncertain significance Holocarboxylase synthetase deficiency 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 218 of the HLCS protein (p.Val218Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with holocarboxylase synthetase deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 570638). 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001805808 SCV002051515 uncertain significance not provided 2020-12-12 criteria provided, single submitter clinical testing PM2, PP3, PS4_Supporting

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