ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.941_942del (p.Ile314fs)

gnomAD frequency: 0.00001  dbSNP: rs749162799
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669098 SCV000793803 likely pathogenic Biotinidase deficiency 2017-08-31 criteria provided, single submitter clinical testing
Invitae RCV000669098 SCV002214270 pathogenic Biotinidase deficiency 2021-11-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BTD protein in which other variant(s) (p.Leu498Phefs*13) have been determined to be pathogenic (PMID: 17382128, 19728141, 29359854). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 553614). This variant has not been reported in the literature in individuals affected with BTD-related conditions. This variant is present in population databases (rs749162799, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Ile334Serfs*19) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 210 amino acid(s) of the BTD protein.
3billion RCV000669098 SCV002318765 likely pathogenic Biotinidase deficiency 2022-03-22 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region. This variant has been reported as pathogenic (ClinVar ID: VCV000553614). The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000119). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV000669098 SCV004211492 likely pathogenic Biotinidase deficiency 2021-12-05 criteria provided, single submitter clinical testing

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