Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000791810 | SCV000931073 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2P | 2022-08-06 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 696 of the LRSAM1 protein (p.Cys696Tyr). This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 639095). This missense change has been observed in individuals with clinical features of autosomal dominant Charcot-Marie-Tooth disease (PMID: 32376792; Invitae). |
Molecular Genetics Laboratory, |
RCV001173639 | SCV001336741 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |