ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu)

gnomAD frequency: 0.00334  dbSNP: rs77134982
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000513012 SCV000514181 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513012 SCV000608452 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV001082221 SCV000646009 benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001099855 SCV001256344 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.

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