ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.296A>G (p.Asn99Ser)

gnomAD frequency: 0.00001  dbSNP: rs397514353
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021919 SCV000800716 uncertain significance Biotinidase deficiency 2018-06-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307368 SCV002600601 uncertain significance not specified 2023-07-18 criteria provided, single submitter clinical testing Variant summary: BTD c.296A>G (p.Asn99Ser) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 250950 control chromosomes (gnomAD). c.296A>G has been reported in the literature in at least two compound heterozygous individuals affected with Biotinidase Deficiency (example: Procter_2016). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 26810761). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
PreventionGenetics, part of Exact Sciences RCV003982846 SCV004797178 uncertain significance BTD-related disorder 2023-10-27 no assertion criteria provided clinical testing The BTD c.356A>G variant is predicted to result in the amino acid substitution p.Asn119Ser. This variant was reported along with a second, known pathogenic BTD variant (c.1459del, p.Trp487Glyfs*14) in at least one individual with suspected biotinidase deficiency (Procter et al. 2016. PubMed ID: 26810761). This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-15683461-A-G). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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