ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3789_3790insTAGC (p.Leu1264Ter)

dbSNP: rs1114167717
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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 RCV000490824 SCV000580167 pathogenic Hereditary cancer-predisposing syndrome 2016-04-13 criteria provided, single submitter clinical testing The c.3789_3790insTAGC pathogenic mutation (also known as p.L1264*), located in coding exon 8 of the MSH6 gene, results from an insertion of 4 nucleotides at position 3789, causing a translational frameshift and an alternate stop codon at position 1264. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Baylor Genetics RCV003464046 SCV004196361 likely pathogenic Endometrial carcinoma 2021-08-16 criteria provided, single submitter clinical testing

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