ClinVar Miner

Submissions for variant NM_000534.5(PMS1):c.985C>G (p.Leu329Val)

dbSNP: rs770544182
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000735970 SCV000864159 uncertain significance Polyp of colon 2016-09-01 criteria provided, single submitter research Found in patient having exome sequencing due to suspicion for hereditary colon cancer and/or polyps. Patient is a 55 year old male with a history of 11-20 colon polyps. No family history of colorectal cancer or colon polyps. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.

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