Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725449 | SCV000337018 | uncertain significance | not provided | 2015-12-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725449 | SCV000577498 | uncertain significance | not provided | 2019-09-11 | criteria provided, single submitter | clinical testing | Observed in multiple families with cutaneous melanoma, however, the variant did not always segregate with affected family members (Nathan et al., 2019); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31233279) |
Genetic Services Laboratory, |
RCV000404080 | SCV000597099 | uncertain significance | not specified | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001156460 | SCV001317959 | uncertain significance | Oculocutaneous albinism type 4 | 2017-07-18 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV000725449 | SCV001560431 | uncertain significance | not provided | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 451 of the SLC45A2 protein (p.Arg451His). This variant is present in population databases (rs142680641, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SLC45A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 284405). 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 SLC45A2 protein function. 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. |