ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1410-10T>G (rs372053184)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580704 SCV000684742 likely benign Hereditary cancer-predisposing syndrome 2015-10-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586910 SCV000696110 likely benign not provided 2016-05-20 criteria provided, single submitter clinical testing Variant summary: The MLH1 c.1410-10T>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant, and 5/5 Alamut splicing algorithms predict no significant change to splicing This variant was found in 13/121388 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0008656 (9/10398). This frequency exceeds the estimated maximal expected allele frequency of a pathogenic MLH1 variant (0.0007105), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. The variant was identified in one CRC patient without evidence of causality (ie co-segregation). Taken together, the variant was classified as Likely Benign.
Invitae RCV000232447 SCV000284018 benign Hereditary nonpolyposis colon cancer 2017-12-26 criteria provided, single submitter clinical testing

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