ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)

gnomAD frequency: 0.00245  dbSNP: rs149736764
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185945 SCV000238902 benign not specified 2018-03-05 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.
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000185945 SCV000539302 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Gene assocaited with multiple carboxylase deficiency/ holocarboxylase synthetase deficiency - Affected infants often have difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy).2 homo Europeans. Frequency of this variant is too high for the disorder ( estimated to affect 1 in 87,000 people)
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625204 SCV000744130 likely benign Holocarboxylase synthetase deficiency 2016-05-02 criteria provided, single submitter clinical testing
Invitae RCV000625204 SCV000756242 benign Holocarboxylase synthetase deficiency 2021-12-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000625204 SCV001296828 likely benign Holocarboxylase synthetase deficiency 2018-01-12 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573888 SCV001800397 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001573888 SCV001925555 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000625204 SCV002083727 benign Holocarboxylase synthetase deficiency 2019-12-04 no assertion criteria provided clinical testing

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