Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001547479 | SCV001767194 | uncertain significance | not provided | 2021-06-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533) |
Labcorp Genetics |
RCV001547479 | SCV003241811 | uncertain significance | not provided | 2023-08-30 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1187886). This variant has not been reported in the literature in individuals affected with RIN2-related conditions. This variant is present in population databases (rs367797077, gnomAD 0.08%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 14 of the RIN2 protein (p.Arg14Gln). |
Revvity Omics, |
RCV003132516 | SCV003816153 | uncertain significance | RIN2 syndrome | 2021-08-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004039281 | SCV004938450 | uncertain significance | Inborn genetic diseases | 2023-01-18 | criteria provided, single submitter | clinical testing | The c.41G>A (p.R14Q) alteration is located in exon 1 (coding exon 1) of the RIN2 gene. This alteration results from a G to A substitution at nucleotide position 41, causing the arginine (R) at amino acid position 14 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
3billion | RCV003132516 | SCV005328623 | likely benign | RIN2 syndrome | 2024-09-20 | criteria provided, single submitter | clinical testing | The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant. |