ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.326T>G (p.Phe109Cys)

dbSNP: rs1064796722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004027354 SCV004930504 likely pathogenic Li-Fraumeni syndrome 1 2024-02-12 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].
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785545 SCV000924117 likely pathogenic Ovarian neoplasm 2018-12-01 no assertion criteria provided research

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