ClinVar Miner

Submissions for variant NM_000038.6(APC):c.532-14_532-12del

dbSNP: rs765893314
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581877 SCV000687015 likely benign Hereditary cancer-predisposing syndrome 2017-04-13 criteria provided, single submitter clinical testing
GeneDx RCV001722422 SCV000715426 likely benign not provided 2022-09-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV003103997 SCV002346826 likely benign Familial adenomatous polyposis 1 2024-01-13 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001353825 SCV000591037 uncertain significance Familial adenomatous polyposis 1 no assertion criteria provided clinical testing The c.532-14_532-12del variant has not been previously reported in the literature nor was it identified in public databases. It is located in the 3' splice region but does not affect the invariant -1 and -2 positions. However, positions -3 and -5 to -12 are part of the splicing consensus sequence and this variant spans into the -12 position and variants involving these positions sometimes affect splicing. However, splicing prediction softwares (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing, but this information is not predictive enough to rule out pathogenicity. Functional or segregation studies may be required to determine the clinical significance of this variant. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance.

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