ClinVar Miner

Submissions for variant NM_006502.3(POLH):c.725C>G (p.Ser242Ter)

gnomAD frequency: 0.00001  dbSNP: rs745778317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556302 SCV004293649 pathogenic not provided 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser242*) in the POLH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POLH are known to be pathogenic (PMID: 11773631, 24130121, 25256075). This variant is present in population databases (rs745778317, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with POLH-related conditions (PMID: 17344931). ClinVar contains an entry for this variant (Variation ID: 264680). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000243669 SCV000320715 not provided Xeroderma pigmentosum variant type no assertion provided literature only

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