ClinVar Miner

Submissions for variant NM_198681.3(PLEKHG5):c.2219C>T (p.Thr740Met) (rs397515456)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039170 SCV001202684 uncertain significance Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2020-07-30 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 663 of the PLEKHG5 protein (p.Thr663Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs397515456, ExAC 0.03%). This variant has been observed in combination with another PLEKHG5 variant in an individual affected with Charcot-Marie-Tooth disease (PMID: 23844677). ClinVar contains an entry for this variant (Variation ID: 60780). This variant has been reported to affect PLEKHG5 protein function (PMID: 23844677). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507927 SCV001713771 uncertain significance not provided 2020-05-14 criteria provided, single submitter clinical testing
OMIM RCV000054547 SCV000083025 pathogenic Charcot-Marie-Tooth disease, recessive intermediate c 2013-07-12 no assertion criteria provided literature only

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