ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.3366CGA[3] (p.Asp1125dup)

dbSNP: rs758774731
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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 RCV000475206 SCV000556977 likely benign Left ventricular noncompaction 8 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000609350 SCV000715423 likely benign not specified 2017-11-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000609350 SCV000731748 benign not specified 2017-06-28 criteria provided, single submitter clinical testing p.Asp1125dup in exon 15 of PRDM16: This variant is not expected to have clinical significance as it is present in 1.077% of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs7 58774731). This variant represents an inframe duplication in a repetitive region containing several aspartic acids (Asp).

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