ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn)

gnomAD frequency: 0.00060  dbSNP: rs191798831
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866276 SCV001007350 likely benign Left ventricular noncompaction 8 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001595048 SCV001829301 uncertain significance not provided 2023-04-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32746448)
Clinical Genetics, Academic Medical Center RCV001700318 SCV001918683 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001595048 SCV001963299 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003955640 SCV004773497 likely benign PRDM16-related disorder 2023-11-05 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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