ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.69A>G (p.Glu23=) (rs63750555)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162712 SCV000213173 likely benign Hereditary cancer-predisposing syndrome 2015-01-16 criteria provided, single submitter clinical testing
Color RCV000162712 SCV000684861 likely benign Hereditary cancer-predisposing syndrome 2015-05-05 criteria provided, single submitter clinical testing
Counsyl RCV000663024 SCV000786048 likely benign Lynch syndrome II 2018-02-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000506165 SCV000917645 uncertain significance not specified 2017-10-06 criteria provided, single submitter clinical testing Variant summary: The MLH1 c.69A>G (p.Glu23Glu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/246094 control chromosomes at a frequency of 0.0000081, which does not exceed the estimated maximal expected allele frequency of a pathogenic MLH1 variant (0.0007105). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000161941 SCV000211926 likely benign Hereditary nonpolyposis colon cancer 2018-01-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506165 SCV000601409 uncertain significance not specified 2017-06-09 criteria provided, single submitter clinical testing

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