ClinVar Miner

Submissions for variant NM_001567.4(INPPL1):c.1343C>T (p.Ser448Leu)

gnomAD frequency: 0.00199  dbSNP: rs139442327
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000969609 SCV001117135 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000969609 SCV001810833 uncertain significance not provided 2020-12-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003918410 SCV004744531 likely benign INPPL1-related disorder 2019-05-20 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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