ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1795-13G>A

gnomAD frequency: 0.00001  dbSNP: rs749522265
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000679605 SCV000531625 likely benign not provided 2018-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679605 SCV000806728 likely benign not provided 2018-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000679605 SCV002231153 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356095 SCV001551163 likely benign Carcinoma of colon no assertion criteria provided clinical testing The POLE c.1795-13G>A variant was not identified in the literature. The variant was identified in dbSNP (rs749522265) as “with likely benign allele”, ClinVar (interpreted as "likely benign" by GeneDx and Prevention Genetics). The variant was identified in control databases in 2 of 245,234 chromosomes at a frequency of 0.000008 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Latino in 2 of 33,502 chromosomes (freq: 0.00006), but not in the African, Other, European, Ashkenazi Jewish, East Asian, Finnish, and South Asian populations. The variant occurs at a non-conserved nucleotide outside of the consensus splicing sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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