ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)

gnomAD frequency: 0.00011  dbSNP: rs368124997
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558052 SCV000631924 likely benign Holocarboxylase synthetase deficiency 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023820 SCV004882385 uncertain significance Inborn genetic diseases 2021-04-28 criteria provided, single submitter clinical testing The c.1975G>A (p.V659I) alteration is located in exon 11 (coding exon 8) of the HLCS gene. This alteration results from a G to A substitution at nucleotide position 1975, causing the valine (V) at amino acid position 659 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000558052 SCV001455956 uncertain significance Holocarboxylase synthetase deficiency 2019-10-28 no assertion criteria provided clinical testing

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