ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.136C>A (p.Pro46Thr)

gnomAD frequency: 0.00001  dbSNP: rs778785164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000394008 SCV000441823 uncertain significance Biotinidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520100 SCV003655671 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.196C>A (p.P66T) alteration is located in exon 2 (coding exon 2) of the BTD gene. This alteration results from a C to A substitution at nucleotide position 196, causing the proline (P) at amino acid position 66 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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