ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) (rs745663149)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201184 SCV000255779 pathogenic Charcot-Marie-Tooth disease, type 4A 2014-05-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000201184 SCV000784291 pathogenic Charcot-Marie-Tooth disease, type 4A 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661961 SCV000784292 pathogenic Charcot-Marie-Tooth disease type 2K 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661962 SCV000784293 pathogenic Charcot-Marie-Tooth disease, recessive intermediate A 2018-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000760441 SCV000890324 pathogenic not provided 2018-09-19 criteria provided, single submitter clinical testing The R125X variant in the GDAP1 gene has been reported previously in the compound heterozygous and homozygous states in association with early-onset CMT, type 4A (Moroni et al., 2009; Fusco et al., 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R125X variant is observed in 2/34,420 (0.006%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). We interpret R125X as a pathogenic variant.

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