ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp)

gnomAD frequency: 0.00013  dbSNP: rs139902499
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185955 SCV000238912 uncertain significance not provided 2020-08-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001037955 SCV001201393 likely benign Holocarboxylase synthetase deficiency 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298244 SCV003995098 uncertain significance Inborn genetic diseases 2023-05-30 criteria provided, single submitter clinical testing The c.889C>T (p.R297W) alteration is located in exon 5 (coding exon 2) of the HLCS gene. This alteration results from a C to T substitution at nucleotide position 889, causing the arginine (R) at amino acid position 297 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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