ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter)

gnomAD frequency: 0.00001  dbSNP: rs758615834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004168 SCV001162954 likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001004168 SCV002810563 likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2021-11-23 criteria provided, single submitter clinical testing
Invitae RCV002549234 SCV003285689 pathogenic not provided 2023-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu776*) in the LRPPRC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRPPRC are known to be pathogenic (PMID: 26510951). This variant is present in population databases (rs758615834, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with LRPPRC-related conditions. ClinVar contains an entry for this variant (Variation ID: 813358). For these reasons, this variant has been classified as Pathogenic.

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