ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5197C>T (p.Pro1733Ser) (rs1441448668)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565711 SCV000667697 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Integrated Genetics/Laboratory Corporation of America RCV000588797 SCV000694070 uncertain significance not provided 2017-07-03 criteria provided, single submitter clinical testing Variant summary: The APC c.5197C>T (p.Pro1733Ser) variant involves the alteration of a conserved nucleotide, resulting in a missense change in one of the SAMP repeat domains (InterPro). 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent from the large control database ExAC (0/120632 control chromosomes). In the literature, the variant was identified in a colorectal cancer patient as a somatic variant with no loss of heterozygosity detected (Christie_Oncogene_2013). Taken together, this variant is classified as VUS until additional information becomes available.

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