ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.255A>T (p.Ala85=) (rs139357821)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199755 SCV000253655 likely benign Charcot-Marie-Tooth disease type 4 2020-12-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000287175 SCV000336704 likely benign not specified 2015-12-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000999867 SCV000378168 uncertain significance Charcot-Marie-Tooth disease, type 4H 2018-01-12 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.
GeneDx RCV001311295 SCV000518235 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999867 SCV000885451 likely benign Charcot-Marie-Tooth disease, type 4H 2018-12-15 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173488 SCV001336577 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311295 SCV001501407 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000287175 SCV001918110 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001311295 SCV001929346 likely benign not provided no assertion criteria provided clinical testing

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