ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.4056T>A (p.Asp1352Glu) (rs146630100)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767147 SCV000251663 uncertain significance not provided 2016-02-09 criteria provided, single submitter clinical testing The D1352E variant has not been published as pathogenic variant, or reported as a benign variant to our knowledge. This variant was not observed with significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The D1352E variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or rare benign variant.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000196658 SCV000258237 uncertain significance not specified 2015-04-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271669 SCV001452973 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-04-24 no assertion criteria provided clinical testing

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