ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.1896C>T (p.Leu632=)

gnomAD frequency: 0.00158  dbSNP: rs61732221
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704340 SCV000528404 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing
Invitae RCV000876582 SCV001019173 benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411358 SCV002723914 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003970190 SCV004791195 likely benign PLEKHG5-related disorder 2019-06-06 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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