ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.432C>T (p.Ser144=) (rs1046304919)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462635 SCV000561530 likely benign Hereditary nonpolyposis colon cancer 2017-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491454 SCV000580243 likely benign Hereditary cancer-predisposing syndrome 2016-05-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000521132 SCV000618507 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.432C>T at the DNA level. Although this variant is silent at the coding level, preserving a Serine at codon 144, it is predicted to cause abnormal splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 c.432C>T was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). The nucleotide which is altered, a cytosine (C) at base 432, is not conserved. Based on currently available information, it is unclear whether MSH6 c.432C>T is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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