ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.795G>C (p.Gln265His)

dbSNP: rs1553653855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670667 SCV000795551 uncertain significance Biotinidase deficiency 2017-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670667 SCV002134771 uncertain significance Biotinidase deficiency 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 285 of the BTD protein (p.Gln285His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with partial biotinidase deficiency (PMID: 26361991). ClinVar contains an entry for this variant (Variation ID: 554943). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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