ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met)

gnomAD frequency: 0.00171  dbSNP: rs112530241
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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) RCV000303908 SCV000332548 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing
GeneDx RCV001697701 SCV000530031 likely benign not provided 2020-05-11 criteria provided, single submitter clinical testing
Invitae RCV000558074 SCV000646061 likely 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 RCV001101949 SCV001258593 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 RCV002356367 SCV002655546 likely benign Inborn genetic diseases 2019-09-28 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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