ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5734G>A (p.Ala1912Thr) (rs1554086930)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589208 SCV000694082 uncertain significance not provided 2017-02-23 criteria provided, single submitter clinical testing Variant summary: The c.5734G>A (p.Ala1912Thr) in APC gene is a missense change that involves a non-conserved nucleotide and 3/5 in silico tools predict benign outcome. The variant of interest is located outside of any known functional domain. The variant is absent from the control population dataset of ExAC (0/120818chrs tested). This variant has not, to our knowledge, been reported in affected individuals via published reports or cited by reputable databases/clinical laboratories. The variant was identified in a sample tested positive for a likely pathogenic mutation, c.1648G>T (p.E550*) in BRCA2. Taking together, the variant was classified as VUS.

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