ClinVar Miner

Submissions for variant NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) (rs56307355)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000006252 SCV000267457 likely pathogenic Xeroderma pigmentosum variant type 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000899778 SCV001044063 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000006252 SCV001326594 likely benign Xeroderma pigmentosum variant type 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
OMIM RCV000006252 SCV000026434 pathogenic Xeroderma pigmentosum variant type 2000-12-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000006252 SCV001142357 uncertain significance Xeroderma pigmentosum variant type 2020-01-06 no assertion criteria provided curation NM_006502.2:c.1603A>G in the POLH gene has an allele frequency of 0.008 in East Asian subpopulation in the gnomAD database. Benign computational verdict because benign predictions from DEOGEN2, EIGEN, FATHMM-MKL, PrimateAI and SIFT. It has been detected in heterozygous state in one individual with xeroderma pigmentosum (PMID: 11121129). We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: PP4, BP4.

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