ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2559C>T (p.Ile853=) (rs371673459)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163176 SCV000213697 likely benign Hereditary cancer-predisposing syndrome 2014-12-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589686 SCV000697354 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing Variant summary: The PMS2 c.2559C>T (p.Ile853Ile) 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. 5/5 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 2/200130 control chromosomes at a frequency of 0.00001, which does not exceed the estimated maximal expected allele frequency of a pathogenic PMS2 variant (0.0001136). Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign, without evidence for independent evaulation. 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 RCV000228797 SCV000285125 likely benign Lynch syndrome 2016-03-01 criteria provided, single submitter clinical testing

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