ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.731G>T (p.Gly244Val)

dbSNP: rs985033810
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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. RCV004022214 SCV004933002 likely pathogenic Li-Fraumeni syndrome 1 2024-02-16 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 RCV000785338 SCV000923906 likely pathogenic Ovarian neoplasm 2018-12-01 no assertion criteria provided research

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