ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.4073_*33dup (p.Lys1358_Ter1361=)

dbSNP: rs1289787991
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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 RCV001303283 SCV001492523 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-07-16 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1006269). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant occurs in a non-coding region of the MSH6 gene. It does not change the encoded amino acid sequence of the MSH6 protein.
GeneDx RCV001586117 SCV001811997 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001806106 SCV002053199 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-05 criteria provided, single submitter clinical testing This variant is a 44-bp duplication in the C-terminal end of the MSH6 gene including translation stop codon and 3' untranslated sequence. 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 1/250968 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 RCV004005018 SCV004841319 uncertain significance Lynch syndrome 2023-10-23 criteria provided, single submitter clinical testing This variant is a 44-bp duplication in the C-terminal end of the MSH6 gene including translation stop codon and 3' untranslated sequence. 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 1/250968 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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