Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501715 | SCV000596374 | uncertain significance | not specified | 2016-10-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857149 | SCV002181340 | uncertain significance | not provided | 2022-04-18 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2514 of the PCNT protein (p.Arg2514Gln). This variant is present in population databases (rs370021414, gnomAD 0.09%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with PCNT-related conditions. ClinVar contains an entry for this variant (Variation ID: 436271). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Prevention |
RCV003979895 | SCV004799313 | uncertain significance | PCNT-related condition | 2024-02-01 | criteria provided, single submitter | clinical testing | The PCNT c.7541G>A variant is predicted to result in the amino acid substitution p.Arg2514Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.094% of alleles in individuals of African descent in gnomAD, including one homozygote. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |