ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1002C>T (p.Ala334=)

gnomAD frequency: 0.00352  dbSNP: rs116114362
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185952 SCV000238909 benign not specified 2014-10-17 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 RCV000634879 SCV000756237 benign Holocarboxylase synthetase deficiency 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000634879 SCV001302182 likely benign 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 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.
CeGaT Center for Human Genetics Tuebingen RCV003436976 SCV004153625 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing HLCS: BP4, BP7, BS1

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