ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.3352G>A (p.Val1118Met)

gnomAD frequency: 0.00006  dbSNP: rs542279737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658373 SCV000780145 uncertain significance not provided 2020-08-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 546487; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000699648 SCV000828368 uncertain significance Left ventricular noncompaction 8 2023-12-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1118 of the PRDM16 protein (p.Val1118Met). This variant is present in population databases (rs542279737, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PRDM16-related conditions. ClinVar contains an entry for this variant (Variation ID: 546487). 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.
New York Genome Center RCV000699648 SCV001468784 uncertain significance Left ventricular noncompaction 8 2019-07-11 criteria provided, single submitter clinical testing

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