ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter)

dbSNP: rs1555461339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574863 SCV000670610 pathogenic Hereditary cancer-predisposing syndrome 2023-07-07 criteria provided, single submitter clinical testing The p.K443* pathogenic mutation (also known as c.1327A>T), located in coding exon 4 of the PALB2 gene, results from an A to T substitution at nucleotide position 1327. This changes the amino acid from a lysine to a stop codon within coding exon 4. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV000814465 SCV000954876 pathogenic Familial cancer of breast 2021-08-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 disease. ClinVar contains an entry for this variant (Variation ID: 484160). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys443*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV000814465 SCV004189372 pathogenic Familial cancer of breast 2023-09-08 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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