ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.454-8C>G (rs1064793659)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478265 SCV000566706 uncertain significance not provided 2015-05-27 criteria provided, single submitter clinical testing This variant is denoted MLH1 c.454-8C>G or IVS5-8C>G and consists of a C>G nucleotide substitution at the -8 position of intron 5 of the MLH1 gene. Multiple in silico models predict this variant to destroy the nearby natural acceptor site, and to possibly cause abnormal gene splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The cytosine (C) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether MLH1 c.454-8C>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000775774 SCV000910218 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-19 criteria provided, single submitter clinical testing

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