ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.3097G>A (p.Glu1033Lys)

gnomAD frequency: 0.00004  dbSNP: rs554867627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797953 SCV000937543 uncertain significance Left ventricular noncompaction 8 2022-12-16 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 644110). This variant has not been reported in the literature in individuals affected with PRDM16-related conditions. This variant is present in population databases (rs554867627, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1033 of the PRDM16 protein (p.Glu1033Lys).
New York Genome Center RCV000797953 SCV002506659 uncertain significance Left ventricular noncompaction 8 2021-06-23 criteria provided, single submitter clinical testing

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