ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.645T>G (p.Ser215Arg)

dbSNP: rs1057520001
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465501 SCV000545340 pathogenic Li-Fraumeni syndrome 2023-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 376661). 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 serine, which is neutral and polar, with arginine, which is basic and polar, at codon 215 of the TP53 protein (p.Ser215Arg).
Counsyl RCV000662560 SCV000785159 uncertain significance Li-Fraumeni syndrome 1 2017-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002289537 SCV002582034 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000662560 SCV002582562 uncertain significance Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000662560 SCV004017846 likely pathogenic Li-Fraumeni syndrome 1 2023-04-11 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant is expected to disrupt protein structure [Myriad internal data].
GeneDx RCV004786685 SCV005401443 likely pathogenic not provided 2024-05-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 12826609, 29979965, 34273903, 26619011, 30224644, 30287823, 36243179, 35659507, 32164171, 15510160, 33309985, 32980694, 30840781)
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785463 SCV000924035 likely pathogenic Ovarian neoplasm 2018-12-01 no assertion criteria provided research

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