ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.-4A>G

dbSNP: rs1559083136
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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 RCV000757442 SCV000885667 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing The LRPPRC c.-4A>G variant, to our knowledge, is not reported in the medical literature or gene specific variation databases. This variant is also absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating that it is not a common polymorphism. Although the nucleotide at this position is weakly conserved, it does reside in a region that is involved in regulating translation. Therefore, based on the available information, the clinical significance of the c.-4A>G variant cannot be determined with certainty.

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