ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1185_1186del (p.Tyr397fs)

dbSNP: rs1572722039
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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 RCV001010208 SCV001170367 pathogenic Hereditary cancer-predisposing syndrome 2018-05-17 criteria provided, single submitter clinical testing The c.1185_1186delAC pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 1185 to 1186, causing a translational frameshift with a predicted alternate stop codon (p.Y397Cfs*3). 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.
Mendelics RCV002249630 SCV002517640 pathogenic Endometrial carcinoma 2022-05-04 criteria provided, single submitter clinical testing

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