Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647398 | SCV000769194 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2023-03-10 | criteria provided, single submitter | clinical testing | An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 538196). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is present in population databases (rs745499366, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 753 of the ALK protein (p.Arg753Trp). |
Preventiongenetics, |
RCV003424231 | SCV004117599 | uncertain significance | ALK-related condition | 2022-09-19 | criteria provided, single submitter | clinical testing | The ALK c.2257C>T variant is predicted to result in the amino acid substitution p.Arg753Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-29462644-G-A) and is interpreted as a variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/538196/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Baylor Genetics | RCV000647398 | SCV004190358 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2023-07-02 | criteria provided, single submitter | clinical testing |