ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn)

gnomAD frequency: 0.00010  dbSNP: rs373951547
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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 RCV001454173 SCV001657887 likely benign Holocarboxylase synthetase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004631711 SCV005120890 uncertain significance Inborn genetic diseases 2024-04-12 criteria provided, single submitter clinical testing The c.262G>A (p.D88N) 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 262, causing the aspartic acid (D) at amino acid position 88 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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