ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly) (rs144732922)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199460 SCV000251670 uncertain significance not provided 2018-08-24 criteria provided, single submitter clinical testing A variant of unknown significance has been identified in the LRPPRC gene. The E432G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The E432G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Invitae RCV000199460 SCV001023685 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001274202 SCV001527333 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2018-04-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
New York Genome Center RCV001254972 SCV001431060 uncertain significance Seizures; Intellectual disability 2020-03-10 no assertion criteria provided clinical testing
Natera, Inc. RCV001274202 SCV001458050 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-01-24 no assertion criteria provided clinical testing

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