ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.458-13C>G

gnomAD frequency: 0.00001  dbSNP: rs1057522695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662971 SCV000785951 uncertain significance Lynch syndrome 5 2018-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868184 SCV002168851 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-10-07 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the MSH6 gene. It does not directly change the encoded amino acid sequence of the MSH6 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 548843). Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (Invitae). 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.
Myriad Genetics, Inc. RCV000662971 SCV004018447 uncertain significance Lynch syndrome 5 2023-03-27 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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