ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3147del (p.Ala1051fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002649940 SCV002975517 pathogenic not provided 2022-01-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LRPPRC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Ala1051Hisfs*6) 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).
Fulgent Genetics, Fulgent Genetics RCV005025925 SCV005663716 likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2024-04-21 criteria provided, single submitter clinical testing

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