ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2618_2619del (p.Gly873fs)

dbSNP: rs1114167749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491765 SCV000580258 pathogenic Hereditary cancer-predisposing syndrome 2014-12-16 criteria provided, single submitter clinical testing The c.2618_2619delGG pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 2618 and 2619 causing a translational frameshift with a predicted alternate stop codon (p.G873Dfs*7). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Myriad Genetics, Inc. RCV003449314 SCV004185878 pathogenic Lynch syndrome 5 2023-08-17 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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