ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)

gnomAD frequency: 0.00003  dbSNP: rs1004027979
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001801035 SCV002046342 pathogenic not provided 2020-10-28 criteria provided, single submitter clinical testing The frameshift variant causes the premature termination of BTD protein synthesis. It has been reported in an individual with biotinidase deficiency in the published literature (PMID: 26810761 (2016))). The frequency of this variant in the general population is consistent with pathogenicity. Therefore, the variant is classified as pathogenic.
Baylor Genetics RCV003475096 SCV004211439 pathogenic Biotinidase deficiency 2023-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003475096 SCV004293422 pathogenic Biotinidase deficiency 2023-09-10 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: 1330018). This premature translational stop signal has been observed in individual(s) with biotinidase deficiency (PMID: 26810761). This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Gly367Glnfs*23) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 177 amino acid(s) of the BTD protein.
Fulgent Genetics, Fulgent Genetics RCV003475096 SCV005660290 likely pathogenic Biotinidase deficiency 2024-06-07 criteria provided, single submitter clinical testing

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