ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)

gnomAD frequency: 0.11920  dbSNP: rs1065758
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078724 SCV000110584 benign not specified 2013-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078724 SCV000304070 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330589 SCV000436051 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000330589 SCV001730426 benign Holocarboxylase synthetase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000330589 SCV001738107 benign Holocarboxylase synthetase deficiency 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001668184 SCV001887566 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078724 SCV000151395 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV000330589 SCV002083739 benign Holocarboxylase synthetase deficiency 2019-11-21 no assertion criteria provided clinical testing

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