ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.643del (p.Tyr214_Val215insTer)

dbSNP: rs1553412064
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571391 SCV000662481 pathogenic Hereditary cancer-predisposing syndrome 2017-09-28 criteria provided, single submitter clinical testing The c.643delG pathogenic mutation (also known as p.V215*), located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 643. This changes the amino acid from a valine to a stop codon within coding exon 4. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003593981 SCV004365313 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val215*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 28888541). ClinVar contains an entry for this variant (Variation ID: 479909). For these reasons, this variant has been classified as Pathogenic.
CZECANCA consortium RCV003128159 SCV003804337 pathogenic Endometrial carcinoma 2023-02-21 no assertion criteria provided clinical testing

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