ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.489_495del (p.Lys164fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
deCODE genetics, Amgen RCV003485930 SCV004022269 likely pathogenic Li-Fraumeni syndrome 1 2023-07-21 no assertion criteria provided research The variant NM_000546.6:c.489_495del (chr17:7675116) in TP53 was detected in 1 heterozygote out of 58K WGS Icelanders (MAF= 0,001%). This variant has not been reported in ClinVar previously. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic.

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