ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.539T>C (p.Val180Ala) (rs63750102)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131430 SCV000186411 uncertain significance Hereditary cancer-predisposing syndrome 2014-08-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587902 SCV000696168 uncertain significance not provided 2016-05-18 criteria provided, single submitter clinical testing Variant summary: The MLH1 c.539T>C (p.Val180Ala) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is absent in 121366 control chromosomes from the large and broad populations of ExAC. 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. It has been classified as a variant of uncertain significance by a lab in ClinVar. Because of the absence of clinical information and the lack of functional studies, the variant has currently been classified as a variant of uncertain significance (VUS) until additional information becomes available.

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