ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)

dbSNP: rs397514389
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021967 SCV000800585 uncertain significance Biotinidase deficiency 2017-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000021967 SCV002301523 pathogenic Biotinidase deficiency 2023-08-17 criteria provided, single submitter clinical testing This variant disrupts the p.Leu278 amino acid residue in BTD. Other variant(s) that disrupt this residue have been observed in individuals with BTD-related conditions (PMID: 14707518), which suggests that this may be a clinically significant amino acid residue. 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: 25045). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 9396567). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 278 of the BTD protein (p.Leu278Pro).
Baylor Genetics RCV000021967 SCV004211472 likely pathogenic Biotinidase deficiency 2023-03-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000021967 SCV005660284 likely pathogenic Biotinidase deficiency 2024-04-20 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251702 SCV001427443 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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