Submissions for variant NM_001166108.2(PALLD):c.1965-12805G>C

dbSNP: rs1553965295

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000534561	SCV000656940	uncertain significance	Pancreatic adenocarcinoma	2019-11-22	criteria provided, single submitter	clinical testing	In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a PALLD-related disease. This sequence change replaces glutamic acid with glutamine at codon 76 of the PALLD protein (p.Glu76Gln). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and glutamine.