Submissions for variant NM_000179.3(MSH6):c.*1A>G

gnomAD frequency: 0.00001  dbSNP: rs587781604

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000129679	SCV000184478	uncertain significance	Hereditary cancer-predisposing syndrome	2016-05-19	criteria provided, single submitter	clinical testing	The c.*1A>G variant is located in the 3' untranslated region (3’UTR) of the MSH6 gene. This variant results from a A to G substitution one nucleotide after the stop codon in the MSH6 gene. Nucleotide conservation data at this position is extremely limited. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659885	SCV000781778	uncertain significance	Lynch syndrome 5	2016-11-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679211	SCV000805834	uncertain significance	not provided	2017-08-16	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000679211	SCV000889448	uncertain significance	not provided	2022-10-29	criteria provided, single submitter	clinical testing	To the best of our knowledge, it has not been reported in the published literature. The best available variant frequency is uninformative because there are too few occurrences in population data. Taking into account the available information, we are unable to determine the clinical significance of this variant. Testing affected family members could help clarify the clinical significance of this variant
Color Diagnostics, LLC DBA Color Health	RCV000129679	SCV000908447	uncertain significance	Hereditary cancer-predisposing syndrome	2023-01-23	criteria provided, single submitter	clinical testing	This variant is located in the 3' untranslated region of the MSH6 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has been identified in 2/250944 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
GeneDx	RCV000679211	SCV001825673	uncertain significance	not provided	2022-12-21	criteria provided, single submitter	clinical testing	Describes a single nucleotide substitution one base downstream of the translational stop codon in the 3' untranslated region (3'UTR); Not observed at a significant frequency in large population cohorts (gnomAD); The nucleotide is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge
All of Us Research Program, National Institutes of Health	RCV003997516	SCV004830153	uncertain significance	Lynch syndrome	2023-12-18	criteria provided, single submitter	clinical testing	This variant is located in the 3' untranslated region of the MSH6 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has been identified in 2/250944 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.