ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.1109G>A (p.Gly370Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002742870 SCV003573530 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.1109G>A (p.G370D) alteration is located in exon 2 (coding exon 1) of the PLCE1 gene. This alteration results from a G to A substitution at nucleotide position 1109, causing the glycine (G) at amino acid position 370 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Neuberg Centre For Genomic Medicine, NCGM RCV003444363 SCV004171341 uncertain significance Nephrotic syndrome, type 3 criteria provided, single submitter clinical testing The missense c.1109G>A(p.Gly370Asp) variant in PLCE1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly370Asp variant is reported with an allele frequency of 0.004% in the gnomAD exomes database and is novel (not in any individuals) in 1000 Genomes database. This variant has not been reported to the ClinVar database. The amino acid change p.Gly370Asp in PLCE1 is predicted as conserved by PhyloP across 100 vertebrates. The amino acid Gly at position 370 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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