ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.146G>A (p.Gly49Glu)

gnomAD frequency: 0.00001  dbSNP: rs754043874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486085 SCV000573332 uncertain significance not provided 2024-03-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV005090976 SCV005847101 uncertain significance Left ventricular noncompaction 8 2024-07-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 49 of the PRDM16 protein (p.Gly49Glu). This variant is present in population databases (rs754043874, gnomAD 0.007%). 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: 423614). 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.

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