ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3950_3976dup (p.Lys1325_Met1326insAsnArgLysAlaArgGluPheGluLys)

dbSNP: rs776322353
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367786 SCV001564150 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1058626). This variant, c.3950_3976dup, results in the insertion of 9 amino acid(s) of the MSH6 protein (p.Lys1325_Met1326insAsnArgLysAlaArgGluPheGluLys), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776322353, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002377543 SCV002625056 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-03 criteria provided, single submitter clinical testing The c.3950_3976dup27 variant (also known as p.K1325_M1326insNRKAREFEK), located in coding exon 9 of the MSH6 gene, results from an in-frame duplication of 27 nucleotides at nucleotide positions 3950 to 3976. This results in the in-frame insertion of 9 extra residues (NRKAREFEK) between codons 1325 and 1326. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV002377543 SCV004357772 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-20 criteria provided, single submitter clinical testing This variant causes an in-frame insertion of 9 amino acids in the MSH6 protein. 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 1/249246 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 RCV004006810 SCV004818876 uncertain significance Lynch syndrome 2023-03-23 criteria provided, single submitter clinical testing This variant causes an in-frame insertion of 9 amino acids in the MSH6 protein. 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 1/249246 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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