ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.*7_*9del

dbSNP: rs201681436
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000185947 SCV001737831 benign not specified 2021-05-20 criteria provided, single submitter clinical testing Variant summary: HLCS c.*7_*9delGCG is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 0.0086 in 249008 control chromosomes in the gnomAD database, including 17 homozygotes. The observed variant frequency is approximately 3-fold of the estimated maximal expected allele frequency for a pathogenic variant in HLCS causing Holocarboxylase Synthetase Deficiency phenotype (0.0028), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.*7_*9delGCG in individuals affected with Holocarboxylase Synthetase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
GeneDx RCV001675661 SCV001892825 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001675661 SCV002544669 benign not provided 2024-10-01 criteria provided, single submitter clinical testing HLCS: BS1, BS2
GeneDx RCV000185947 SCV000238904 benign not specified 2014-04-02 flagged submission clinical testing The variant is found in MITONUC-MITOP panel(s).
Natera, Inc. RCV001273642 SCV001456934 benign Holocarboxylase synthetase deficiency 2020-09-16 no assertion criteria provided clinical testing

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