ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.994C>T (p.Arg332Trp) (rs140202670)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236410 SCV000292666 uncertain significance not provided 2021-01-08 criteria provided, single submitter clinical testing Reported with variants in another NMD related gene in three unrelated patients with ALS (Nishiyama et al., 2017); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28160950)
Invitae RCV001086658 SCV000646074 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2020-12-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000236410 SCV001147077 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001096420 SCV001252628 likely benign Distal spinal muscular atrophy, autosomal recessive 4 2018-01-12 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.
Baylor Genetics RCV001329769 SCV001521295 uncertain significance Charcot-Marie-Tooth disease, recessive intermediate c 2019-07-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Clinical Genetics,Academic Medical Center RCV000236410 SCV001921778 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000236410 SCV001926973 uncertain significance not provided no assertion criteria provided clinical testing

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