Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000215694 | SCV000275393 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-12 | criteria provided, single submitter | clinical testing | The p.A159V variant (also known as c.476C>T), located in coding exon 3 of the MSH6 gene, results from a C to T substitution at nucleotide position 476. The alanine at codon 159 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV000457237 | SCV000551076 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586380 | SCV000695915 | uncertain significance | not provided | 2016-05-03 | criteria provided, single submitter | clinical testing | Variant summary: The c.476C>T variant affects a conserved nucleotide, resulting in amino acid change from Ala to Val. 2/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). This variant is found in 4/120712 control chromosomes at a frequency of 0.0000331, which does not exceed maximal expected frequency of a pathogenic allele (0.0001421). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available. |
Color Diagnostics, |
RCV000215694 | SCV000911113 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000586380 | SCV003923353 | uncertain significance | not provided | 2023-05-03 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in unaffected individuals under the age of 50 undergoing whole genome sequencing (Bodian et al., 2014); This variant is associated with the following publications: (PMID: 23621914, 24728327) |
Baylor Genetics | RCV003460854 | SCV004195545 | uncertain significance | Endometrial carcinoma | 2023-08-29 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997351 | SCV004829264 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121571 | SCV000085767 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |