ClinVar Miner

Submissions for variant NM_003122.4(SPINK1):c.-53C>T (rs367798627)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685287 SCV000812764 uncertain significance Hereditary pancreatitis 2018-05-11 criteria provided, single submitter clinical testing This sequence change falls in the 5'UTR of the SPINK1 gene. It does not change the encoded amino acid sequence of the SPINK1 protein. This variant is present in population databases (rs367798627, gnomAD 0.02%). This variant has been observed in several individuals affected with chronic pancreatitis (PMID: 27171515, 21610753, 22427236). Experimental studies have shown that this change produces reduction of the SPINK1 promoter activity (PMID: 21610753). However, the clinical significance of this finding is unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001024037 SCV001185990 likely pathogenic Inborn genetic diseases 2019-09-19 criteria provided, single submitter clinical testing Deficient protein function in appropriate functional assay(s);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Other strong data supporting pathogenic classification
Illumina Clinical Services Laboratory,Illumina RCV000685287 SCV001318726 uncertain significance Hereditary pancreatitis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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