ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr)

gnomAD frequency: 0.00021  dbSNP: rs140817021
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705312 SCV000293372 likely benign not provided 2019-06-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399593 SCV000358771 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Eurofins Ntd Llc (ga) RCV000236656 SCV000705491 likely benign not specified 2017-02-03 criteria provided, single submitter clinical testing
Invitae RCV000645450 SCV000767195 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003939906 SCV004765120 likely benign PLEKHG5-related disorder 2019-10-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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