Submissions for variant NM_024675.4(PALB2):c.2835-22dup

dbSNP: rs1555459610

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000478678	SCV000569039	uncertain significance	not specified	2016-07-27	criteria provided, single submitter	clinical testing	This variant is denoted PALB2 c.2835-18dupT or IVS8-18dupTand consists of a duplication of thymine (T) at the -18 position of intron 8 of the PALB2 gene. The normal sequence, with the base that is duplicated in braces, is atttt[t]cctt. PALB2 c.2835-18dupT was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Variant Server, indicating it is not a common benign variant in these populations. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. In silico models are inconclusive with respect to splicing, and in the absence of RNA or functional studies, the actual effect of this variant is unknown. Therefore, based on currently available information, it is unclear whether PALB2 c.2835-18dupT is a pathogenic or a benign variant.
Color Diagnostics, LLC DBA Color Health	RCV001178850	SCV001343401	likely benign	Hereditary cancer-predisposing syndrome	2018-12-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002063722	SCV002344279	benign	Familial cancer of breast	2024-12-09	criteria provided, single submitter	clinical testing