Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000149415 | SCV000630746 | likely benign | Hereditary pancreatitis | 2023-12-18 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590793 | SCV000698047 | benign | not provided | 2017-04-25 | criteria provided, single submitter | clinical testing | Variant summary: The PRSS1 c.390C>T (p.Thr130Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool (mutation taster) predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 28/120840 control chromosomes from ExAC at a frequency of 0.0002317, which is approximately 46 times the estimated maximal expected allele frequency of a pathogenic PRSS1 variant (0.000005), strongly supporting that this variant is likely a benign polymorphism. In addition, co-occurrence of this variant and a pathogenic PRSS1 variant (c.365_366delGCinsAT/p.Arg122His) was observed in one patient with chronic pancreatitis (Rygiel_2015). An internal sample with this variant also carries a pathogenic variant (5T_TG12) in CFTR gene. Taken together, this variant is classified as benign. |
| ARUP Laboratories, |
RCV000999875 | SCV000884413 | likely benign | not specified | 2019-06-26 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000149415 | SCV001183031 | likely benign | Hereditary pancreatitis | 2018-09-21 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Forschungslabor Klinik Innere Medizin A University Medicine Greifswald | RCV000149415 | SCV000196056 | unknown | Hereditary pancreatitis | no assertion criteria provided | not provided | Converted during submission to Uncertain significance. |