ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.686T>C (p.Ile229Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002766331 SCV003021144 uncertain significance Maple syrup urine disease 2022-04-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 disruptive. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 229 of the BCKDHB protein (p.Ile229Thr).
Ambry Genetics RCV002766332 SCV003596375 uncertain significance Inborn genetic diseases 2021-12-20 criteria provided, single submitter clinical testing The c.686T>C (p.I229T) alteration is located in exon 6 (coding exon 6) of the BCKDHB gene. This alteration results from a T to C substitution at nucleotide position 686, causing the isoleucine (I) at amino acid position 229 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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