Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000276461 | SCV000415466 | uncertain significance | Insulin-resistant diabetes mellitus AND acanthosis nigricans | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000317517 | SCV000415467 | uncertain significance | Rabson-Mendenhall syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000372115 | SCV000415468 | uncertain significance | Leprechaunism syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003765910 | SCV004651438 | uncertain significance | not provided | 2023-04-29 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt INSR protein function. ClinVar contains an entry for this variant (Variation ID: 330449). This variant has not been reported in the literature in individuals affected with INSR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 978 of the INSR protein (p.Phe978Tyr). |