ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.462G>A (p.Met154Ile)

gnomAD frequency: 0.00010  dbSNP: rs183589811
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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 RCV000891681 SCV001035508 likely benign Holocarboxylase synthetase deficiency 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028409 SCV004882387 uncertain significance Inborn genetic diseases 2022-04-29 criteria provided, single submitter clinical testing The c.21G>A (p.M7I) alteration is located in exon 4 (coding exon 1) of the HLCS gene. This alteration results from a G to A substitution at nucleotide position 21, causing the methionine (M) at amino acid position 7 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000891681 SCV002083751 likely benign Holocarboxylase synthetase deficiency 2021-05-25 no assertion criteria provided clinical testing

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