Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV001823708 | SCV002073348 | uncertain significance | Charcot-Marie-Tooth disease, type IA | criteria provided, single submitter | clinical testing | The missense variant p.H34Q in PMP22 (NM_000304.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge.The missense variant c.102C>A (p.H34Q) in PMP22 (NM_000304.4) is observed in 4/30606 (0.0131%) alleles from individuals of South Asian background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state. In silico predictions are contradictory (SIFT: Damging, SIFT: Tolerated) and the residue is weakly conserved across species. For these reasons, this variant has been classified as Uncertain Significance. |