ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.884A>T (p.Asp295Val)

gnomAD frequency: 0.00001  dbSNP: rs1356599252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001298150 SCV001487194 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 295 of the PLEKHG5 protein (p.Asp295Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. 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: "Deleterious"; PolyPhen-2: "Probably 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 RCV002541853 SCV003616527 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.884A>T (p.D295V) alteration is located in exon 9 (coding exon 8) of the PLEKHG5 gene. This alteration results from a A to T substitution at nucleotide position 884, causing the aspartic acid (D) at amino acid position 295 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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