ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys) (rs149243712)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198972 SCV000251673 uncertain significance not provided 2018-08-27 criteria provided, single submitter clinical testing The E674K missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The E674K 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 conserved position in the LRPPRC protein. However, most in-silico analysis models predict that E674K is a benign sequence change. Therefore, based on the currently available information, it is unclear whether E674K is a disease-causing mutation or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV001140553 SCV001300819 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000198972 SCV001747952 uncertain significance not provided 2021-03-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001140553 SCV001458043 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2019-10-28 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000198972 SCV001739746 likely benign not provided no assertion criteria provided clinical testing

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