ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1211C>A (p.Ser404Tyr)

gnomAD frequency: 0.00006  dbSNP: rs148016991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196886 SCV000251669 uncertain significance not provided 2013-09-17 criteria provided, single submitter clinical testing p.Ser404Tyr (TCC>TAC): c.1211 C>A in exon 10 of the LRPPRC gene (NM_133259.3). The S404Y missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. S404Y is a conservative amino acid substitution of one uncharged, polar amino acid for another. The variant alters a position in the protein that is not highly conserved across species. In silico algorithms are not consistent in their prediction of whether or not S404Y is damaging to the structure/function of the LRPPRC protein. Therefore, based on the currently available information, it is unclear whether S404Y is a disease-causing mutation or a rare benign variant. The variant is found in LSME-MITOP panel(s).
Natera, Inc. RCV001833147 SCV002076569 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2019-11-11 no assertion criteria provided clinical testing

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