ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)

dbSNP: rs397507174
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724129 SCV000230015 likely pathogenic not provided 2014-07-16 criteria provided, single submitter clinical testing
Counsyl RCV000021949 SCV000790182 likely pathogenic Biotinidase deficiency 2017-03-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000021949 SCV004037699 pathogenic Biotinidase deficiency 2023-08-29 criteria provided, single submitter clinical testing Variant summary: BTD c.569A>G (p.Tyr190Cys) results in a non-conservative amino acid change located in the Carbon-nitrogen hydrolase domain (IPR003010) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251486 control chromosomes (gnomAD). c.569A>G has been reported in the literature in multiple compound heterozygous and homozygous individuals affected with Biotinidase Deficiency (e.g., Pomponio_1997, Norrgard_1999, Sarafoglou_2009, Gannavarapu_2015). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 26361991, 10400129, 9396567, 19757147). One submitter has reported clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV000021949 SCV004211454 pathogenic Biotinidase deficiency 2023-06-06 criteria provided, single submitter clinical testing

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