ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2944C>T (p.Gln982Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002825136 SCV003210013 pathogenic not provided 2022-06-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LRPPRC-related conditions. This variant is present in population databases (rs749192795, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln982*) 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).

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