ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.62A>G (p.Asn21Ser) (rs267608025)

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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 RCV000223132 SCV000276437 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: in silico models in agreement (benign),Insufficient or Conflicting Evidence
Integrated Genetics/Laboratory Corporation of America RCV000586767 SCV000695921 uncertain significance not provided 2016-02-08 criteria provided, single submitter clinical testing Variant summary: The c.62A>G variant affects a non-conserved nucleotide, resulting in amino acid change from Asn to Ser. 5/5 in-silico tools predict benign outcome for this variant. This variant is not found in 114394 control chromosomes. This variant has been reported in patients with LS or pancreatic cancer however without strong evidence for pathogenicity (Nilbert_2009, Grant_2015). In addition, one reputable database classified this variant as VUS. Because of the absence of co-segregation evidence and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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