ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.484A>G (p.Lys162Glu)

gnomAD frequency: 0.00001  dbSNP: rs1644685170
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002048564 SCV002298351 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 162 of the PLEKHG5 protein (p.Lys162Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. 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: "Tolerated"; 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 RCV002548826 SCV003633974 uncertain significance Inborn genetic diseases 2022-06-21 criteria provided, single submitter clinical testing The c.484A>G (p.K162E) alteration is located in exon 7 (coding exon 6) of the PLEKHG5 gene. This alteration results from a A to G substitution at nucleotide position 484, causing the lysine (K) at amino acid position 162 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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