ClinVar Miner

Submissions for variant NM_000534.5(PMS1):c.1427A>G (p.Asp476Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154670 SCV003843343 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004577035 SCV005061027 uncertain significance Lynch syndrome 1 criteria provided, single submitter clinical testing The observed missense variant c.1427A>G(p.Asp476Gly) in PMS1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.004% in the gnomAD Exomes. This variant has been reported to the ClinVar database as Benign. However, no details are available for independent assessment. The amino acid Aspartic Acid at position 476 is changed to a Glycine changing protein sequence and it might alter its composition and physico-chemical properties. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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