ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala)

gnomAD frequency: 0.00002  dbSNP: rs531190324
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058021 SCV001222556 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2022-10-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 176 of the PLEKHG5 protein (p.Gly176Ala). This variant is present in population databases (rs531190324, gnomAD 0.01%). 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: 853243). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002348425 SCV002644227 uncertain significance Inborn genetic diseases 2024-08-11 criteria provided, single submitter clinical testing The c.527G>C (p.G176A) alteration is located in exon 7 (coding exon 6) of the PLEKHG5 gene. This alteration results from a G to C substitution at nucleotide position 527, causing the glycine (G) at amino acid position 176 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004691326 SCV005187225 uncertain significance not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001058021 SCV006057020 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2021-11-17 criteria provided, single submitter research

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