ClinVar Miner

Submissions for variant NM_001130965.3(SUN1):c.1646C>T (p.Thr549Met)

gnomAD frequency: 0.01300  dbSNP: rs114015310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553412 SCV000634431 benign Emery-Dreifuss muscular dystrophy 2025-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935425 SCV004748508 likely benign SUN1-related disorder 2024-09-23 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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