ClinVar Miner

Submissions for variant NM_000038.6(APC):c.800G>C (p.Gly267Ala) (rs747759906)

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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 RCV000586621 SCV000694132 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing Variant summary: The APC c.800G>C (p.Gly267Ala) variant involves the alteration of a conserved nucleotide, resulting in a missense change within the pyridoxal phosphate-dependent transferase, major region, subdomain 1 (InterPro). 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to non-functioning tool). This variant is absent from the large database ExAC (0/120038 control chromosomes). To our knowledge, the variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor has it been evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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