ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1894C>T (p.His632Tyr)

dbSNP: rs1961168795
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222627 SCV001394736 uncertain significance Hereditary diffuse gastric adenocarcinoma 2019-05-02 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 632 of the CDH1 protein (p.His632Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDH1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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