ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)

gnomAD frequency: 0.00012  dbSNP: rs200453837
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216750 SCV001388562 likely benign Holocarboxylase synthetase deficiency 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001751405 SCV001996107 uncertain significance not provided 2019-09-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002561908 SCV003658977 likely benign Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001216750 SCV002083719 uncertain significance Holocarboxylase synthetase deficiency 2020-10-06 no assertion criteria provided clinical testing

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