ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.792A>C (p.Glu264Asp)

gnomAD frequency: 0.00001  dbSNP: rs876661253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000217997 SCV000279905 uncertain significance not provided 2016-02-19 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.792A>C at the cDNA level, p.Glu264Asp (E264D) at the protein level, and results in the change of a Glutamic Acid to an Aspartic Acid (GAA>GAC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Glu264Asp was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Glutamic Acid and Aspartic Acid share similar properties, this is considered a conservative amino acid substitution. MSH6 Glu264Asp occurs at a position that is conserved across species and is not located in a known functional domain (Kariola 2002, Terui 2013). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether MSH6 Glu264Asp is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516207 SCV002958848 benign Hereditary nonpolyposis colorectal neoplasms 2022-11-09 criteria provided, single submitter clinical testing

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