ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082030 SCV000561530 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 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 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.
Color RCV000491454 SCV001348045 likely benign Hereditary cancer-predisposing syndrome 2019-06-10 criteria provided, single submitter clinical testing

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