ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer)

dbSNP: rs1555461472
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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 RCV000564999 SCV000666907 pathogenic Hereditary cancer-predisposing syndrome 2016-05-10 criteria provided, single submitter clinical testing The c.1064delT pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from a deletion of one nucleotide at nucleotide position 1064, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Myriad Genetics, Inc. RCV003451241 SCV004188552 pathogenic Familial cancer of breast 2023-09-07 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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