ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.1200C>G (p.Ser400Arg)

gnomAD frequency: 0.00001  dbSNP: rs755513110
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348174 SCV001542465 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2023-06-30 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1043987). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. This variant is present in population databases (rs755513110, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 400 of the PLEKHG5 protein (p.Ser400Arg). 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 RCV002350644 SCV002649301 uncertain significance Inborn genetic diseases 2020-12-03 criteria provided, single submitter clinical testing The p.S400R variant (also known as c.1200C>G), located in coding exon 11 of the PLEKHG5 gene, results from a C to G substitution at nucleotide position 1200. The serine at codon 400 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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