ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)

gnomAD frequency: 0.00022  dbSNP: rs149822970
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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 RCV001485691 SCV001690137 likely benign Holocarboxylase synthetase deficiency 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037256 SCV004882391 uncertain significance Inborn genetic diseases 2023-09-26 criteria provided, single submitter clinical testing The c.67G>A (p.D23N) alteration is located in exon 5 (coding exon 2) of the HLCS gene. This alteration results from a G to A substitution at nucleotide position 67, causing the aspartic acid (D) at amino acid position 23 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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