ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3647-9_3647-5del

dbSNP: rs759094365
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603514 SCV000717560 likely benign not specified 2017-03-27 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 RCV001236653 SCV001409385 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350462 SCV002619360 likely benign Hereditary cancer-predisposing syndrome 2023-01-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV004002504 SCV004832998 uncertain significance Lynch syndrome 2023-04-10 criteria provided, single submitter clinical testing This variant causes a deletion of 5 nucleotides at -5 to -9 positions in intron 7 of the MSH6 gene. 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 2/251016 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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