ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3340C>A (p.Leu1114Ile) (rs1064793520)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478159 SCV000566317 uncertain significance not provided 2015-04-22 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.3340C>A at the cDNA level, p.Leu1114Ile (L1114I) at the protein level, and results in the change of a Leucine to an Isoleucine (CTA>ATA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Leu1114Ile was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Leucine and Isoleucine share similar properties, this is considered a conservative amino acid substitution. MSH6 Leu1114Ile occurs at a position that is conserved through mammals and is located in the MutS domain (Terui 2013). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether MSH6 Leu1114Ile is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000564889 SCV000676337 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Color RCV000564889 SCV000685391 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-30 criteria provided, single submitter clinical testing

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