ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.554G>A (p.Ser185Asn) (rs150607408)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129849 SCV000184666 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000129849 SCV000906430 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-30 criteria provided, single submitter clinical testing
Counsyl RCV000662659 SCV000785348 uncertain significance Li-Fraumeni syndrome 1 2017-07-21 criteria provided, single submitter clinical testing
Invitae RCV000233843 SCV000285201 uncertain significance Li-Fraumeni syndrome 2018-11-09 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 185 of the TP53 protein (p.Ser185Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs150607408, ExAC 0.01%). This variant has been observed in an individual affected with osteosarcoma (PMID: 25896519). ClinVar contains an entry for this variant (Variation ID: 141359). An experimental study in yeast has shown that this variant does not impair the transcriptional transactivation activity of the TP53 protein (PMID: 12826609). 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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