ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.635T>G (p.Phe212Cys)

gnomAD frequency: 0.00002  dbSNP: rs768097543
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802360 SCV002047794 uncertain significance Biotinidase deficiency 2021-10-06 criteria provided, single submitter clinical testing The BTD c.695T>G; p.Phe232Cys variant (rs768097543), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the African population with an allele frequency of 0.012% (2/16256 alleles) in the Genome Aggregation Database. Additionally, another variant at this codon (c.695T>C, p.Phe232Ser) has been reported in an individual with biotinidase deficiency and is considered pathogenic (Procter 2016). The phenylalanine at codon 232 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.93). However, given the lack of clinical and functional data, the significance of the Phe232Cys variant is uncertain at this time. References: Procter M et al. Forty-eight novel mutations causing biotinidase deficiency. Mol Genet Metab. 2016 Mar;117(3):369-72. PMID: 26810761.

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