Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000654577 | SCV000776471 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2023-12-28 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1018 of the RET protein (p.Leu1018Phe). This variant is present in population databases (rs766330880, gnomAD 0.01%). This missense change has been observed in individual(s) with medullary thyroid carcinoma (PMID: 33827484). ClinVar contains an entry for this variant (Variation ID: 543741). 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. |
Mendelics | RCV000709125 | SCV000838408 | uncertain significance | Multiple endocrine neoplasia, type 2a | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001018329 | SCV001179553 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-01 | criteria provided, single submitter | clinical testing | The p.L1018F variant (also known as c.3052C>T), located in coding exon 19 of the RET gene, results from a C to T substitution at nucleotide position 3052. The leucine at codon 1018 is replaced by phenylalanine, an amino acid with highly similar properties. This alteration was identified in 1/245 Chinese patients with medullary thyroid carcinoma (Qi XP et al. BMC Cancer, 2021 Apr;21:369). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Illumina Laboratory Services, |
RCV001106020 | SCV001263044 | uncertain significance | Pheochromocytoma | 2017-04-27 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001106021 | SCV001263045 | uncertain significance | Renal hypodysplasia/aplasia 1 | 2017-04-27 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001106022 | SCV001263046 | uncertain significance | Hirschsprung disease, susceptibility to, 1 | 2017-04-27 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001106023 | SCV001263047 | likely benign | Multiple endocrine neoplasia | 2017-04-27 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV003318621 | SCV004022723 | uncertain significance | not provided | 2023-07-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 14633923, 33827484) |
Center for Genomic Medicine, |
RCV003493698 | SCV004243366 | uncertain significance | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |