ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.421del (p.Gln141fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003452281 SCV004186233 pathogenic Familial cancer of breast 2023-09-06 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004364758 SCV005029021 pathogenic Hereditary cancer-predisposing syndrome 2024-02-23 criteria provided, single submitter clinical testing The c.421delC pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from a deletion of one nucleotide at nucleotide position 421, causing a translational frameshift with a predicted alternate stop codon (p.Q141Rfs*36). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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