ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.360C>T (p.Asn120=)

dbSNP: rs606231348
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756569 SCV000884415 likely benign not provided 2017-05-11 criteria provided, single submitter clinical testing The PRSS1 c.360C>T, p.Asn120Asn variant (rs606231348) has not been reported in the medical literature, but is listed in ClinVar (Variation ID: 161989). It is observed in the Genome Aggregation Database at a frequency of 0.004 percent (11/274710), but is considered a low-confidence variant. The variant is a synonymous substitution, and computational algorithms (GeneSplicer, Human Splicing Finder, MaxEntScan, MutationTaster, NNSplice, SpliceSiteFinder-like) predict no impact on splicing. Based on the above information, the variant is considered likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192435 SCV001360552 likely benign not specified 2019-07-24 criteria provided, single submitter clinical testing
Invitae RCV000149414 SCV001628183 likely benign Hereditary pancreatitis 2023-09-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000149414 SCV002616449 likely benign Hereditary pancreatitis 2021-02-12 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 RCV000149414 SCV000196054 unknown Hereditary pancreatitis no assertion criteria provided not provided Converted during submission to Uncertain significance.

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