Submissions for variant NM_001166108.2(PALLD):c.1571G>T (p.Arg524Ile)

dbSNP: rs776908136

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001145617	SCV001306307	uncertain significance	Pancreatic cancer, susceptibility to, 1	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV004032739	SCV002704079	uncertain significance	not specified	2024-09-22	criteria provided, single submitter	clinical testing	The p.R524I variant (also known as c.1571G>T), located in coding exon 8 of the PALLD gene, results from a G to T substitution at nucleotide position 1571. The arginine at codon 524 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.