ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile)

gnomAD frequency: 0.00008  dbSNP: rs376903098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185954 SCV000238911 likely benign not specified 2013-10-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000814306 SCV000954709 likely benign Holocarboxylase synthetase deficiency 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020254 SCV004882392 uncertain significance Inborn genetic diseases 2023-09-22 criteria provided, single submitter clinical testing The c.850G>A (p.V284I) 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 850, causing the valine (V) at amino acid position 284 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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