ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) (rs397514434)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000032015 SCV000486509 likely pathogenic Biotinidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000032015 SCV001581354 pathogenic Biotinidase deficiency 2020-07-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BTD gene (p.Trp386*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 158 amino acids of the BTD protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be in combination with another BTD variant in several individuals affected with biotinidase deficiency (PMID: 27657684, 10400129). ClinVar contains an entry for this variant (Variation ID: 38569). This variant disrupts the C-terminus of the BTD protein. Other variant(s) that disrupt this region (p.Leu498Phefs*13) have been determined to be pathogenic (PMID: 17382128, 29359854, 19728141, 29359854). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000032015 SCV000055342 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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