ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.832G>A (p.Gly278Ser)

gnomAD frequency: 0.00018  dbSNP: rs375316181
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042641 SCV001206337 uncertain significance Left ventricular noncompaction 8 2024-07-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 278 of the PRDM16 protein (p.Gly278Ser). This variant is present in population databases (rs375316181, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. 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: 840605). 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.
GeneDx RCV002255608 SCV002526515 uncertain significance not provided 2022-02-09 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; This variant is associated with the following publications: (PMID: 26582918)
Fulgent Genetics, Fulgent Genetics RCV001042641 SCV002785902 uncertain significance Left ventricular noncompaction 8 2021-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649413 SCV005151970 uncertain significance Inborn genetic diseases 2024-04-29 criteria provided, single submitter clinical testing The c.832G>A (p.G278S) alteration is located in exon 6 (coding exon 6) of the PRDM16 gene. This alteration results from a G to A substitution at nucleotide position 832, causing the glycine (G) at amino acid position 278 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV002255608 SCV005412305 uncertain significance not provided 2024-08-21 criteria provided, single submitter clinical testing BP4

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