ClinVar Miner

Submissions for variant NM_001378418.1(TCF20):c.3848G>A (p.Arg1283His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003437627 SCV004153193 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing TCF20: BP4, BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV003437627 SCV004539246 uncertain significance not provided 2023-09-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1283 of the TCF20 protein (p.Arg1283His). This variant is present in population databases (rs750743110, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TCF20-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV004364583 SCV004963234 uncertain significance Inborn genetic diseases 2023-10-13 criteria provided, single submitter clinical testing The c.3848G>A (p.R1283H) alteration is located in exon 1 (coding exon 1) of the TCF20 gene. This alteration results from a G to A substitution at nucleotide position 3848, causing the arginine (R) at amino acid position 1283 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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