Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001344856 | SCV001538938 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2P | 2020-01-11 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with LRSAM1-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces asparagine with aspartic acid at codon 318 of the LRSAM1 protein (p.Asn318Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid. |