ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2039A>T (p.Asp680Val)

dbSNP: rs863224056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195925 SCV000251674 uncertain significance not provided 2014-12-17 criteria provided, single submitter clinical testing p.Asp680Val (GAT>GTT): c.2039 A>T in exon 20 of the LRPPRC gene (NM_133259.3). The D680V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D680V 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 moderately conserved across species. In silico analysis predicts this variant likely does not alter 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. The variant is found in MITONUC-MITOP panel(s).
Natera, Inc. RCV001833148 SCV002076562 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-10-27 no assertion criteria provided clinical testing

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