ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2215C>T (p.Arg739Trp)

gnomAD frequency: 0.00009  dbSNP: rs189468475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792452 SCV000931753 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 739 of the PLEKHG5 protein (p.Arg739Trp). This variant is present in population databases (rs189468475, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. ClinVar contains an entry for this variant (Variation ID: 639613). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002424794 SCV002729629 uncertain significance Inborn genetic diseases 2021-11-07 criteria provided, single submitter clinical testing The p.R739W variant (also known as c.2215C>T), located in coding exon 18 of the PLEKHG5 gene, results from a C to T substitution at nucleotide position 2215. The arginine at codon 739 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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