ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.399G>A (p.Glu133=) (rs397514360)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000425369 SCV000511171 likely pathogenic not provided 2016-09-23 criteria provided, single submitter clinical testing
Invitae RCV000021928 SCV000630333 pathogenic Biotinidase deficiency 2017-12-26 criteria provided, single submitter clinical testing This sequence change affects codon 153 of the BTD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BTD protein. It also falls at the last nucleotide of exon 3 of the BTD coding sequence. This variant is not present in population databases (ExAC no frequency). This variant has been identified in combination with other BTD variants in individuals positive for newborn screening and in symptomatic biotinidase deficiency cases with evidence of disease co-segregation (PMID: 9396567, 10400129, 11865279, Invitae). ClinVar contains an entry for this variant (Variation ID: 25009). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing. In addition, previous molecular studies detected no cDNA product with this aberrant splice site which is indicative of rapid degradation of the mRNA (PMID: 9396567, 20556795). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000021928 SCV000042597 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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