ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.362G>A (p.Arg121His)

gnomAD frequency: 0.00003  dbSNP: rs769279475
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020758 SCV001182275 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-07 criteria provided, single submitter clinical testing The c.362G>A (p.R121H) alteration is located in exon 2 (coding exon 2) of the MSH6 gene. This alteration results from a G to A substitution at nucleotide position 362, causing the arginine (R) at amino acid position 121 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV001041513 SCV001205134 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-09-27 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003235247 SCV002010086 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002475965 SCV002784844 uncertain significance Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3 2022-04-08 criteria provided, single submitter clinical testing
GeneDx RCV003235247 SCV003932965 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31857677)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492074 SCV004239318 uncertain significance Breast and/or ovarian cancer 2023-04-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001020758 SCV004356786 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-11 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 121 of the MSH6 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 8/282888 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.
All of Us Research Program, National Institutes of Health RCV004003433 SCV004831132 uncertain significance Lynch syndrome 2023-10-30 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 121 of the MSH6 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 8/282888 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.
Constitutional Genetics Lab, Leon Berard Cancer Center RCV001249983 SCV001423997 uncertain significance Lynch-like syndrome 2019-07-01 no assertion criteria provided clinical testing

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