ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln)

gnomAD frequency: 0.00007  dbSNP: rs368318946
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594923 SCV000701282 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV000805840 SCV000945812 uncertain significance Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3326 of the PLEC protein (p.Arg3326Gln). This variant is present in population databases (rs368318946, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with PLEC-related conditions. ClinVar contains an entry for this variant (Variation ID: 497088). 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 disruptive. 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 RCV000594923 SCV000984459 likely benign not provided 2018-05-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV000594923 SCV001155508 uncertain significance not provided 2016-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530960 SCV003693912 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.9977G>A (p.R3326Q) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 9977, causing the arginine (R) at amino acid position 3326 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity Omics RCV000594923 SCV003811158 uncertain significance not provided 2021-07-15 criteria provided, single submitter clinical testing

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