ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter)

gnomAD frequency: 0.00001  dbSNP: rs1166980943
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673086 SCV000798254 likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2018-03-02 criteria provided, single submitter clinical testing
Invitae RCV002531331 SCV003003054 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg919*) 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 (no rsID available, gnomAD 0.0009%). 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: 557004). For these reasons, this variant has been classified as Pathogenic.

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