ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.58A>T (p.Lys20Ter)

dbSNP: rs2142461082
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gemeinschaftspraxis fuer Humangenetik Dresden RCV002223100 SCV002499982 likely pathogenic Familial cancer of breast 2021-10-14 criteria provided, single submitter clinical testing This mutation c.58A>T, p.(Lys20*) is not reported in HGMD 2021.4, gnomAD (v2.1.1), dbSNP (v151) or LOVD. ACMG: PVS1, PM2
Myriad Genetics, Inc. RCV002223100 SCV004189425 pathogenic Familial cancer of breast 2023-09-05 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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