ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.512C>T (p.Thr171Ile)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002597246 SCV002940687 uncertain significance Maple syrup urine disease 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 171 of the DBT protein (p.Thr171Ile). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DBT-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002597245 SCV003529411 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.512C>T (p.T171I) alteration is located in exon 5 (coding exon 5) of the DBT gene. This alteration results from a C to T substitution at nucleotide position 512, causing the threonine (T) at amino acid position 171 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002597246 SCV004050167 uncertain significance Maple syrup urine disease 2023-04-11 criteria provided, single submitter clinical testing
GeneDx RCV004774702 SCV005386700 uncertain significance not provided 2024-04-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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