ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2467A>G (p.Thr823Ala)

dbSNP: rs878854686
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232027 SCV000288469 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-06-02 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 239897). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 823 of the CDH1 protein (p.Thr823Ala).
Ambry Genetics RCV000574257 SCV000661680 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-12 criteria provided, single submitter clinical testing The p.T823A variant (also known as c.2467A>G), located in coding exon 16 of the CDH1 gene, results from an A to G substitution at nucleotide position 2467. The threonine at codon 823 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mendelics RCV000232027 SCV001140154 uncertain significance Hereditary diffuse gastric adenocarcinoma 2019-05-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000574257 SCV001360164 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-04 criteria provided, single submitter clinical testing This missense variant replaces threonine with alanine at codon 823 of the CDH1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003463667 SCV004215689 uncertain significance Familial cancer of breast 2023-07-16 criteria provided, single submitter clinical testing

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