ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.48G>C (p.Gln16His)

dbSNP: rs1597376489
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796121 SCV000935618 uncertain significance Li-Fraumeni syndrome 2022-01-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 642623). 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. Experimental studies have shown that this missense change does not substantially affect TP53 function (PMID: 12826609). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TP53 protein function. This variant has not been reported in the literature in individuals affected with TP53-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 16 of the TP53 protein (p.Gln16His).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003141781 SCV003807552 uncertain significance Li-Fraumeni syndrome 1 2022-07-05 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 supporting
Baylor Genetics RCV003467353 SCV004206228 uncertain significance Adrenocortical carcinoma, hereditary 2023-09-27 criteria provided, single submitter clinical testing

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