ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3296del (p.Thr1099fs)

dbSNP: rs1966508003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222257 SCV001394351 pathogenic Familial cancer of breast 2020-02-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the PALB2 protein. Other variant(s) that disrupt this region (c.3549C>A, p.Tyr1183*) have been determined to be pathogenic (PMID: 17200671, 20927582, 21165770, 21365267, 26283626). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. 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 results in a premature translational stop signal in the PALB2 gene (p.Thr1099Argfs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 88 amino acids of the PALB2 protein.
Genetics and Molecular Pathology, SA Pathology RCV001222257 SCV002556684 pathogenic Familial cancer of breast 2020-05-15 criteria provided, single submitter clinical testing

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