ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.518T>G (p.Val173Gly)

dbSNP: rs1057519747
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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 RCV000807434 SCV000947486 uncertain significance Li-Fraumeni syndrome 2023-12-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 173 of the TP53 protein (p.Val173Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 376016). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 12826609, 29979965, 30224644) indicates that this missense variant is expected to disrupt TP53 function with a positive predictive value of 97.5%. 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.
Baylor Genetics RCV003463825 SCV004206263 likely pathogenic Adrenocortical carcinoma, hereditary 2023-06-30 criteria provided, single submitter clinical testing

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