ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1288G>A (p.Gly430Arg) (rs587779915)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115373 SCV000149282 uncertain significance not provided 2013-10-11 criteria provided, single submitter clinical testing This variant MSH6 c.1288G>A at the cDNA level and p.Gly430Arg (G430R) at the protein level, and results in the change of a Glycine to an Arginine (GGG>AGG) in exon 4. This variant is a non-conservative substitution of a non-polar amino acid for a polar one and alters a position that is well conserved throughout evolution and not located in a known functional domain. This variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI ESP Exome Variant Server, suggesting it is not a common benign variant in these populations. Multiple in silico algorithms predict that this variant may be damaging to protein structure and function. This variant has not, to our knowledge, been published in the literature as either a mutation or a polymorphism. Based on the currently available information, we consider the MSH6 variant G430R to be of unknown significance. The variant is found in BR-OV-HEREDIC panel(s).
Ambry Genetics RCV000218965 SCV000278606 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence

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