Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001034380 | SCV001197722 | benign | not provided | 2023-04-12 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001034380 | SCV001553995 | likely benign | not provided | no assertion criteria provided | clinical testing | The MTOR p.Ile1825Val variant was not identified in the literature nor was it identified in the ClinVar, Cosmic, or LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs748927495). The variant was identified in control databases in 3 of 244022 chromosomes at a frequency of 0.000012 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the Latino population in 3 of 34014 chromosomes (freq: 0.000088), while the variant was not observed in the African, Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), South Asian or Other populations. The p.Ile1825 residue is conserved in in mammals but not in more distantly related organisms. Computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) 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 although we would lean towards a more benign role for this variant. This variant is classified as likely benign. |