ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.640C>A (p.His214Asn) (rs876658466)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214223 SCV000273724 uncertain significance Hereditary cancer-predisposing syndrome 2015-01-26 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Invitae RCV000803678 SCV000943560 uncertain significance Li-Fraumeni syndrome 2019-11-29 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 214 of the TP53 protein (p.His214Asn). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with colorectal cancer (PMID: 28135145). ClinVar contains an entry for this variant (Variation ID: 230254). This variant has been reported to have conflicting or insufficient data to determine the effect on TP53 protein function (PMID: 12826609, 19462533). 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.

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