ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp)

dbSNP: rs372602993
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043725 SCV001207485 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2022-01-28 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 173 of the PLEKHG5 protein (p.Arg173Trp). This variant is present in population databases (rs372602993, gnomAD 0.004%). 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: 841491). 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"). 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 RCV002339220 SCV002641455 uncertain significance Inborn genetic diseases 2019-08-30 criteria provided, single submitter clinical testing The p.R173W variant (also known as c.517C>T), located in coding exon 6 of the PLEKHG5 gene, results from a C to T substitution at nucleotide position 517. The arginine at codon 173 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003480921 SCV004227738 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing PM2

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