ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1451T>G (p.Leu484Ter) (rs786203714)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001011656 SCV001172003 pathogenic Hereditary cancer-predisposing syndrome 2019-10-21 criteria provided, single submitter clinical testing The p.L484* pathogenic mutation (also known as c.1451T>G), located in coding exon 4 of the PALB2 gene, results from a T to G substitution at nucleotide position 1451. This changes the amino acid from a leucine 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.
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030651 SCV001193682 likely pathogenic Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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