ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs) (rs752914914)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669822 SCV000794611 likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2017-10-04 criteria provided, single submitter clinical testing
Invitae RCV001205402 SCV001376656 pathogenic not provided 2020-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile622Thrfs*16) in the LRPPRC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752914914, ExAC 0.01%). This variant has not been reported in the literature in individuals with LRPPRC-related conditions. ClinVar contains an entry for this variant (Variation ID: 554233). Loss-of-function variants in LRPPRC are known to be pathogenic (PMID: 26510951). For these reasons, this variant has been classified as Pathogenic.

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