ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2640_2641insAAA (p.Asp880_Gly881insLys)

gnomAD frequency: 0.00001  dbSNP: rs1252374906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000708878 SCV000837900 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000708878 SCV004838360 uncertain significance Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing This variant causes the insertion of three nucleotides in exon 4 of the MSH6 gene, resulting in the in-frame insertion of one amino acid in the MSH6 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with ovarian cancer (PMID: 26556299). This variant has been identified in 3/250486 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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