ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3286del (p.His1096fs)

dbSNP: rs797044605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001853125 SCV002113873 pathogenic not provided 2023-01-09 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: 212735). This variant has not been reported in the literature in individuals affected with LRPPRC-related conditions. This variant is present in population databases (rs797044605, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.His1096Thrfs*7) 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).
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000194544 SCV000223935 likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2014-09-08 no assertion criteria provided clinical testing

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