ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)

gnomAD frequency: 0.00001  dbSNP: rs575787457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001977408 SCV002259636 pathogenic Biotinidase deficiency 2023-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 1473153). This missense change has been observed in individual(s) with BTD-related conditions (PMID: 26361991; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs575787457, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 127 of the BTD protein (p.Pro127Leu).
Fulgent Genetics, Fulgent Genetics RCV001977408 SCV002816072 uncertain significance Biotinidase deficiency 2021-08-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV001977408 SCV004211409 likely pathogenic Biotinidase deficiency 2024-03-10 criteria provided, single submitter clinical testing

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