ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)

gnomAD frequency: 0.00018  dbSNP: rs147474255
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125359 SCV000168810 benign not specified 2013-12-13 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.
Illumina Laboratory Services, Illumina RCV000314830 SCV000436039 uncertain significance Holocarboxylase synthetase deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000314830 SCV000756239 likely benign Holocarboxylase synthetase deficiency 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001312004 SCV001502414 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000314830 SCV001653490 likely benign Holocarboxylase synthetase deficiency 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000314830 SCV001453936 uncertain significance Holocarboxylase synthetase deficiency 2020-01-09 no assertion criteria provided clinical testing

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