ClinVar Miner

Submissions for variant NM_006502.2(POLH):c.490G>T (p.Glu164Ter) (rs767433001)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000251879 SCV000267456 likely pathogenic Xeroderma pigmentosum variant type 2016-03-18 criteria provided, single submitter reference population
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV001195542 SCV001365923 pathogenic Xeroderma pigmentosum 2019-06-16 criteria provided, single submitter clinical testing The p.Glu164X variant in POLH has been reported in 9 homozygotes and 2 compound heterozygous individuals with Xeroderma pigmentosum variant type (XP-V) (Tanioka 2007, Inui 2008, Masaki 2008). It has also been identified in 0.03% (5/18392) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org) and has been reported in ClinVar (Variation ID: 225444). Although this is a nonsense variant, it is located in the last three bases of the exon, which is part of the 5’ splice region. Computational tools and in vitro splicing studies are consistent with pathogenicity (Tanioka 2007, Inui 2008). In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive XP-V. ACMG/AMP Criteria applied: PVS1_Strong, PM3_Strong, PS3_Supporting.
GeneReviews RCV000251879 SCV000320714 pathogenic Xeroderma pigmentosum variant type 2016-09-26 no assertion criteria provided literature only

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