ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.572T>G (p.Val191Gly)

gnomAD frequency: 0.00005  dbSNP: rs146894954
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241632 SCV001414663 uncertain significance Maple syrup urine disease 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 191 of the DBT protein (p.Val191Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine. This variant is present in population databases (rs146894954, ExAC 0.001%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002564006 SCV003700020 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The c.572T>G (p.V191G) alteration is located in exon 6 (coding exon 6) of the DBT gene. This alteration results from a T to G substitution at nucleotide position 572, causing the valine (V) at amino acid position 191 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001241632 SCV004050165 uncertain significance Maple syrup urine disease 2023-04-11 criteria provided, single submitter clinical testing

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