ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3253_3254insT (p.Thr1085fs)

dbSNP: rs1572735220
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019450 SCV001180810 pathogenic Hereditary cancer-predisposing syndrome 2022-07-13 criteria provided, single submitter clinical testing The c.3253_3254insT pathogenic mutation, located in coding exon 5 of the MSH6 gene, results from an insertion of one nucleotide at position 3253, causing a translational frameshift with a predicted alternate stop codon (p.T1085Ifs*8). 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.

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