ClinVar

Description

The COMP p.N323S variant was not identified in the literature nor was it identified in ClinVar. The variant was identified in dbSNP (ID: rs367812050) and in control databases in 10 of 249136 chromosomes at a frequency of 0.00004014 (Genome Aggregation Database March 6, 2019, v2.1.1). The p.N323 residue is conserved in mammals and computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.