ClinVar Miner

Submissions for variant NM_001379610.1(SPINK1):c.-40G>A

gnomAD frequency: 0.00001  dbSNP: rs560283989
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001813083 SCV001473549 uncertain significance not provided 2020-02-12 criteria provided, single submitter clinical testing The SPINK1 c.-40G>A variant (rs560283989), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on four chromosomes in the South Asian population (4/30324 alleles) in the Genome Aggregation Database. This variant is located in the 5' untranslated region and creates a novel protein translation start codon that is predicted to be as strong as the endogenous translation start site (NetStart 1.0) and may cause a frameshift, although functional studies would be required to confirm this. Given the lack of clinical and functional data, the significance of the c.-40G>A variant is uncertain at this time.

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