ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)

gnomAD frequency: 0.00017  dbSNP: rs149690919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078066 SCV000109904 uncertain significance not provided 2013-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514372 SCV003285998 uncertain significance Biotinidase deficiency 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 457 of the BTD protein (p.Val457Ala). This variant is present in population databases (rs149690919, 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: 92398). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant disrupts the p.Val457 amino acid residue in BTD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9396567, 28281033). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 RCV002514373 SCV003756874 uncertain significance Inborn genetic diseases 2022-05-20 criteria provided, single submitter clinical testing The c.1370T>C (p.V457A) alteration is located in exon 4 (coding exon 4) of the BTD gene. This alteration results from a T to C substitution at nucleotide position 1370, causing the valine (V) at amino acid position 457 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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