ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp)

gnomAD frequency: 0.00048  dbSNP: rs374664141
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475755 SCV000544792 likely benign Left ventricular noncompaction 8 2024-01-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000603087 SCV000711459 uncertain significance not specified 2016-12-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asn161Asp var iant in PRDM16 has not been previously reported in individuals with cardiomyopat hy, but has been identified in 0.13% (13/9750) of African chromosomes by the Exo me Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3746641 41). Computational prediction tools and conservation analysis suggest that the p .Asn161Asp variant may not impact the protein, though this information is not pr edictive enough to rule out pathogenicity. In summary, while the clinical signif icance of the p.Asn161Asp variant is uncertain, these data suggest that it is mo re likely to be benign.
GeneDx RCV001704554 SCV000729545 likely benign not provided 2019-02-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24140581)
Ambry Genetics RCV003298479 SCV003993356 uncertain significance Inborn genetic diseases 2023-04-04 criteria provided, single submitter clinical testing The c.481A>G (p.N161D) alteration is located in exon 4 (coding exon 4) of the PRDM16 gene. This alteration results from a A to G substitution at nucleotide position 481, causing the asparagine (N) at amino acid position 161 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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