ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys)

gnomAD frequency: 0.00007  dbSNP: rs745652723
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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 RCV001409969 SCV001612009 likely benign Holocarboxylase synthetase deficiency 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554004 SCV003735095 uncertain significance Inborn genetic diseases 2020-10-30 criteria provided, single submitter clinical testing The c.1228G>A (p.E410K) alteration is located in exon 7 (coding exon 4) of the HLCS gene. This alteration results from a G to A substitution at nucleotide position 1228, causing the glutamic acid (E) at amino acid position 410 to be replaced by a lysine (K). Based on data from the Genome Aggregation Database (gnomAD) database, the HLCS c.1228G>A alteration was observed in 0.006% (18/282606) of total alleles studied, with a frequency of 0.01% (3/25116) in the European (Finnish) subpopulation. This amino acid position is not well conserved in available vertebrate species. The p.E410K alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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