ClinVar Miner

Submissions for variant NM_001379610.1(SPINK1):c.-15C>T

gnomAD frequency: 0.00006  dbSNP: rs148434824
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Total submissions: 2
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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 RCV000587009 SCV000698168 uncertain significance not provided 2017-04-27 criteria provided, single submitter clinical testing Variant summary: The SPINK1 c.-15C>T variant involves the alteration of a non-conserved nucleotide located in the 5' UTR. One in silico tool predicts a benign outcome for this variant. This variant was found in 11/118816 control chromosomes at a frequency of 0.0000926, which does not exceed the estimated maximal expected allele frequency of a pathogenic SPINK1 variant (0.0050126). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)."
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000587009 SCV000884575 uncertain significance not provided 2017-11-20 criteria provided, single submitter clinical testing

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