ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs)

dbSNP: rs769022521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213935 SCV001385595 pathogenic not provided 2024-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1050Argfs*4) 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). 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 premature translational stop signal has been observed in individual(s) with clinical features of French Canadian type Leigh syndrome (PMID: 26510951). ClinVar contains an entry for this variant (Variation ID: 218169). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000202391 SCV004191074 pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2023-07-13 criteria provided, single submitter clinical testing
OMIM RCV000202391 SCV000257426 pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2015-12-01 no assertion criteria provided literature only

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