ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1277T>A (p.Leu426Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002308442 SCV002603375 likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2022-01-02 criteria provided, single submitter clinical testing NM_133259.3(LRPPRC):c.1277T>A(L426*) is expected to be pathogenic in the context of Leigh syndrome, French-Canadian type. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in LRPPRC, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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