ClinVar Miner

Submissions for variant NC_000016.10:g.23608013del

dbSNP: rs2142274423
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381777 SCV001580276 pathogenic Familial cancer of breast 2020-08-30 criteria provided, single submitter clinical testing Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575). This variant has not been reported in the literature in individuals with PALB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1069Phefs*6) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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