ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)

gnomAD frequency: 0.00012  dbSNP: rs144901367
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506608 SCV000600946 uncertain significance not specified 2017-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001234656 SCV001407313 uncertain significance Biotinidase deficiency 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 238 of the BTD protein (p.Gly238Ala). This variant is present in population databases (rs144901367, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with BTD-related conditions. ClinVar contains an entry for this variant (Variation ID: 439038). 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.
Ambry Genetics RCV002524900 SCV003746026 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.713G>C (p.G238A) alteration is located in exon 4 (coding exon 4) of the BTD gene. This alteration results from a G to C substitution at nucleotide position 713, causing the glycine (G) at amino acid position 238 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001234656 SCV002081563 uncertain significance Biotinidase deficiency 2019-10-28 no assertion criteria provided clinical testing

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