ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1474C>A (p.Gln492Lys)

gnomAD frequency: 0.00014  dbSNP: rs138844739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906152 SCV002160154 likely benign Holocarboxylase synthetase deficiency 2023-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004631802 SCV005128113 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.1033C>A (p.Q345K) alteration is located in exon 6 (coding exon 3) of the HLCS gene. This alteration results from a C to A substitution at nucleotide position 1033, causing the glutamine (Q) at amino acid position 345 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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