ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.553A>G (p.Met185Val)

gnomAD frequency: 0.00053  dbSNP: rs376567517
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224254 SCV000280726 uncertain significance not provided 2016-01-11 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001088151 SCV000654404 likely benign Left ventricular noncompaction 8 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000224254 SCV000721987 likely benign not provided 2020-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004745291 SCV005360891 likely benign PRDM16-related disorder 2024-05-31 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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