ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4693G>A (p.Asp1565Asn) (rs767138124)

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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 RCV000590266 SCV000694057 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing Variant summary: The APC c.4693G>A (p.Asp1565Asn) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). This variant was not found in 120572 control chromosome. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. One internal sample carrying this variant also carries another pathogenic variant MSH2 c.942+3A>T, suggesting it may be possibly benign. Another missense variant at the same codon, p.Asp1565Tyr, has been classified as VUS by our lab. Because of the absence of sufficient clinical information and the lack of functional studies, the variant has currently been classified as a variant of uncertain significance (VUS) until additional information becomes available.

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