ClinVar Miner

Submissions for variant NM_003901.4(SGPL1):c.134G>A (p.Trp45Ter)

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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 RCV002871866 SCV003235822 pathogenic not provided 2022-09-15 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 SGPL1-related conditions. This sequence change creates a premature translational stop signal (p.Trp45*) in the SGPL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGPL1 are known to be pathogenic (PMID: 28165339, 28165343). This variant is present in population databases (no rsID available, gnomAD 0.006%).

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