ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter)

dbSNP: rs148828179
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670533 SCV000795395 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2017-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855543 SCV002152840 pathogenic not provided 2023-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 554835). This variant has not been reported in the literature in individuals affected with LRPPRC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Tyr1359*) 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).
Baylor Genetics RCV000670533 SCV004191115 pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2022-11-03 criteria provided, single submitter clinical testing

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