ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000757291 SCV000253655 likely benign not provided 2019-03-04 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 RCV000199755 SCV000378168 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000287175 SCV000518235 likely benign not specified 2017-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757291 SCV000885451 likely benign not provided 2018-01-03 criteria provided, single submitter clinical testing The c.255A>T; p.Ala85Ala variant (rs139357821, ClinVar variant ID 215968) does not alter the amino acid sequence of the FGD4 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with neuropathy in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with a non-Finnish European population frequency of 0.2% (identified on 316 out of 126,690 chromosomes). Based on the available information, the c.255A>T variant is likely to be benign.

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