ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.439C>T (p.Arg147Trp)

dbSNP: rs1936724586
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758205 SCV001985769 uncertain significance not provided 2019-11-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified in published literature (Miszalski-Jamka et al., 2017) by exome sequencing in a patient with left ventricular noncompaction who also harbored a variant in the LAMA4 gene; This variant is associated with the following publications: (PMID: 28798025)
Labcorp Genetics (formerly Invitae), Labcorp RCV003507386 SCV004298832 uncertain significance DiGeorge syndrome 2023-01-15 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 138 of the TBX1 protein (p.Arg138Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with left ventricular noncompaction cardiomyopathy (LVNC) (PMID: 28798025). ClinVar contains an entry for this variant (Variation ID: 1303912). 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.

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