ClinVar Miner

Submissions for variant NM_004793.4(LONP1):c.527C>T (p.Ser176Leu)

gnomAD frequency: 0.00058  dbSNP: rs139555567
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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 RCV001933195 SCV002190758 benign not provided 2025-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001933195 SCV005192503 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004538613 SCV004751233 likely benign LONP1-related disorder 2022-07-06 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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