ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1236T>C (p.His412=)

gnomAD frequency: 0.00001  dbSNP: rs764634151
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841523 SCV000983493 likely benign not provided 2018-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000841523 SCV001673882 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274203 SCV001458051 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-03-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003975356 SCV004786902 likely benign LRPPRC-related disorder 2019-02-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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