Submissions for variant NM_012120.3(CD2AP):c.560C>T (p.Pro187Leu)

dbSNP: rs864622037

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001853280	SCV002299542	uncertain significance	not provided	2021-03-12	criteria provided, single submitter	clinical testing	Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with CD2AP-related conditions. ClinVar contains an entry for this variant (Variation ID: 219344). This sequence change replaces proline with leucine at codon 187 of the CD2AP protein (p.Pro187Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency).
Prostate Cancer Research Center, Institute of Biosciences and Medical Technology, University of Tampere	RCV000204091	SCV000259054	uncertain significance	Malignant tumor of prostate		no assertion criteria provided	research