ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=)

gnomAD frequency: 0.00028  dbSNP: rs370666430
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720061 SCV000518865 likely benign not provided 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV000873146 SCV001015084 benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001099763 SCV001256243 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002436260 SCV002750604 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.
CeGaT Center for Human Genetics Tuebingen RCV001720061 SCV004699006 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing PLEKHG5: BP4

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