ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.869G>A (p.Gly290Glu)

dbSNP: rs397514393
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003499928 SCV004292229 pathogenic Biotinidase deficiency 2023-06-03 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. This variant is also known as c.935G>A . This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 11865279). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 310 of the BTD protein (p.Gly310Glu).

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