ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) (rs745790694)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518350 SCV000613300 likely pathogenic not provided 2017-07-11 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789755 SCV000929134 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825523 SCV000966838 likely pathogenic Charcot-Marie-Tooth disease, type 4J 2018-06-15 criteria provided, single submitter clinical testing The p.Gln823X variant in FIG4 has been reported in 1 individual with a suspicion of Charcot-Marie-Tooth (CMT; Nicholson 2011) and in ClinVar (Variation ID: 4473 36). This variant has been identified in 6/126658 European chromosomes by the Ge nome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs745 790694). This nonsense variant leads to a premature termination codon at positio n 823, which is predicted to lead to a truncated or absent protein. CMT Type 4J is caused by biallelic compound heterozygous pathogenic variants in FIG4, most c ommonly when one is a missense variant and the other a loss-of-function variant (Nicholson 2011). Biallelic pathogenic variants that cause complete loss of FIG4 function is associated with Yunis-Varon syndrome (YVS) (Campeau 2013). In summa ry, although additional studies are required to fully establish its clinical sig nificance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1_Ve ryStrong; PM2.

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