ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.249+5G>T

dbSNP: rs2065329555
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001316905 SCV001507545 uncertain significance Biotinidase deficiency 2020-07-14 criteria provided, single submitter clinical testing This variant has been observed to be in combination with another BTD variant in an individual affected with biotinidase deficiency (Invitae). Nucleotide substitutions within 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 is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 2 of the BTD gene. It does not directly change the encoded amino acid sequence of the BTD protein, but it affects a nucleotide within the consensus splice site of the intron.
Natera, Inc. RCV001316905 SCV002081549 uncertain significance Biotinidase deficiency 2020-07-23 no assertion criteria provided clinical testing

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