ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3155A>G (p.Glu1052Gly)

gnomAD frequency: 0.00001  dbSNP: rs587781568
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129593 SCV000184377 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-13 criteria provided, single submitter clinical testing The p.E1052G variant (also known as c.3155A>G), located in coding exon 4 of the MSH6 gene, results from an A to G substitution at nucleotide position 3155. The glutamic acid at codon 1052 is replaced by glycine, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000705750 SCV000834763 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001293976 SCV001482704 uncertain significance Lynch syndrome 5 2019-02-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV003460897 SCV004197618 uncertain significance Endometrial carcinoma 2024-02-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000129593 SCV004357702 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-19 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with glycine at codon 1052 of the MSH6 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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 3/246208 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.

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