ClinVar Miner

Submissions for variant NM_002769.4(PRSS1):c.-30_-28delTCC

dbSNP: rs386134264
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030382 SCV000053049 benign not specified 2019-12-16 criteria provided, single submitter clinical testing Variant summary: PRSS1 c.-30_-28delTCC is located in the untranscribed region upstream of the PRSS1 gene region. The variant allele was found at a frequency of 0.00049 in 282842 control chromosomes in the gnomAD database, including 1 homozygote. The observed variant frequency is approximately 98- fold the estimated maximal expected allele frequency for a pathogenic variant in PRSS1 causing Chronic Pancreatitis phenotype (5e-06), strongly suggesting that the variant is benign. c.-30_-28delTCC has been reported in the literature in at least one individual affected with Chronic Pancreatitis (Ferec_1999) without strong evidence for causality such as cosegregation with disease. This report does not provide unequivocal conclusions about association of the variant with Chronic Pancreatitis. At least one publication reports in vitro experimental evidence evaluating trancription of PRSS1 and found that the variant had no significant impact on PRSS1 transcription in mammalian cells (Boulling_2016). These results showed no damaging effect of this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV002054515 SCV002384589 benign Hereditary pancreatitis 2022-01-26 criteria provided, single submitter clinical testing
GeneDx RCV002225271 SCV002504343 likely benign not provided 2019-04-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
OMIM RCV002054515 SCV000032889 pathogenic Hereditary pancreatitis 1999-03-01 no assertion criteria provided literature only

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