ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser)

dbSNP: rs202191898
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000554274 SCV000279697 likely benign not provided 2018-12-05 criteria provided, single submitter clinical testing
Invitae RCV001088219 SCV000646032 benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000554274 SCV001147073 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing PLEKHG5: BS2
Illumina Laboratory Services, Illumina RCV001101747 SCV001258384 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV004020708 SCV005004422 likely benign Inborn genetic diseases 2023-11-09 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.

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