ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)

dbSNP: rs397514376
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002966879 SCV003283477 pathogenic Biotinidase deficiency 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 202 of the BTD protein (p.Asn202Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 20224900; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2070102). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BTD protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV002966879 SCV003830196 uncertain significance Biotinidase deficiency 2022-05-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV002966879 SCV004211416 likely pathogenic Biotinidase deficiency 2024-02-20 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002966879 SCV005420693 likely pathogenic Biotinidase deficiency 2024-10-04 criteria provided, single submitter research PM3,PM1,PM2,PP2

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