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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