Submissions for variant NM_000940.3(PON3):c.94C>T (p.Arg32Ter)

gnomAD frequency: 0.00195  dbSNP: rs147006695

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000766322	SCV000680809	uncertain significance	not provided	2016-03-03	criteria provided, single submitter	clinical testing	The R32X variant in the PON3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The NHLBI ESP Exome Sequencing Project reports R32X was observed in 19/8600 alleles from individuals of European American background, indicating it may be a rare variant in this population; no individuals homozygous for this allele were reported in this control population. We interpret R32X as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics	RCV000579077	SCV000895874	uncertain significance	not specified	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000766322	SCV001115920	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	RCV001095523	SCV001251104	likely benign	Amyotrophic lateral sclerosis	2020-03-31	criteria provided, single submitter	research