ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3438+6T>C (rs370170322)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443780 SCV000515856 likely benign not specified 2016-05-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000546237 SCV000624865 uncertain significance Hereditary nonpolyposis colon cancer 2019-12-15 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the MSH6 gene. It does not directly change the encoded amino acid sequence of the MSH6 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with colorectal cancer (PMID: 28531214). ClinVar contains an entry for this variant (Variation ID: 89387). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). However, an experimental study has shown that this variant does not abrogate mismatch repair function in cultured mouse cells (PMID: 28531214). 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.
Color RCV000774608 SCV000908419 likely benign Hereditary cancer-predisposing syndrome 2016-11-10 criteria provided, single submitter clinical testing

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