ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) (rs151071780)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000755884 SCV000526539 uncertain significance not provided 2018-01-23 criteria provided, single submitter clinical testing The Q88E variant in the BTD gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q88E variant is observed in 541/277114 (0.1952%) alleles in large population cohorts and no individuals are reported to be homozygous (Lek et al., 2016). The Q88E variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Q88E as a variant of uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755884 SCV000883529 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV000876680 SCV001019283 benign Biotinidase deficiency 2020-11-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755884 SCV001134039 uncertain significance not provided 2019-04-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000876680 SCV001460179 uncertain significance Biotinidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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