ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser)

gnomAD frequency: 0.00001  dbSNP: rs397514743
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klaassen Lab, Charite University Medicine Berlin RCV000853165 SCV000995879 uncertain significance Familial restrictive cardiomyopathy 2019-07-03 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000054520 SCV002298126 uncertain significance Left ventricular noncompaction 8 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 816 of the PRDM16 protein (p.Asn816Ser). This variant is present in population databases (rs397514743, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with left ventricular noncompaction or restrictive cardiomyopathy (PMID: 23768516, 31568572). ClinVar contains an entry for this variant (Variation ID: 60726). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000054520 SCV000082998 pathogenic Left ventricular noncompaction 8 2013-07-11 no assertion criteria provided literature only

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