ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2135G>C (p.Trp712Ser)

dbSNP: rs63750561
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586210 SCV000696147 uncertain significance not provided 2017-02-17 criteria provided, single submitter clinical testing Variant summary: The MLH1 c.2135G>C (p.Trp712Ser) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may create SC35 and SF2/ASF ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant is absent in the large control database ExAC (0/121230 control chromosomes). Overall, there were very few data points in the literature and databases regarding this variant. Taken together, this variant is classified as VUS.

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