ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.-16-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002884942 SCV003238623 uncertain significance Biotinidase deficiency 2023-04-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2032396). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with biotinidase deficiency (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change affects an acceptor splice site in intron 1 of the BTD gene. However, it is currently unclear if variants that occur in this region of the gene cause disease.

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