ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs) (rs769022521)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213935 SCV001385595 pathogenic not provided 2019-07-22 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with clinical features of French-Canadian Leigh syndrome (PMID: 26510951). ClinVar contains an entry for this variant (Variation ID: 218169). Loss-of-function variants in LRPPRC are known to be pathogenic (PMID: 26510951). For these reasons, this variant has been classified as Pathogenic.
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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