Submissions for variant NM_016953.4(PDE11A):c.155G>C (p.Arg52Thr)

gnomAD frequency: 0.00164  dbSNP: rs77972073

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000426419	SCV000514082	uncertain significance	not provided	2016-02-11	criteria provided, single submitter	clinical testing	The R52T variant in the PDE11A gene has been reported previously as a functional polymorphism that has been identified more often in patients with testicular germ cell tumors than in healthy controls (Horvath et al., 2009; Azevedo et al., 2013). In vitro transfection experiments show that R52T leads to reduced ability of PDE11A to degrade cAMP (Horvath et al., 2009; Azevedo et al., 2013). The NHLBI ESP Exome Sequencing Project reports R52T was observed in 0.34% (30/8600) alleles from individuals of European American background, indicating it may be a rare (benign) variant in this population. The R52T variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret R52T as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000426419	SCV001030890	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing