ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=)

gnomAD frequency: 0.10172  dbSNP: rs62639695
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175471 SCV000226953 benign not specified 2015-06-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294433 SCV000358743 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001510752 SCV001717863 benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001618330 SCV001846698 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426836 SCV002727354 benign Inborn genetic diseases 2020-01-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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