ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1013T>G (p.Phe338Cys)

dbSNP: rs1060501219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458147 SCV000545379 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-07-17 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 406621). 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 phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 338 of the CDH1 protein (p.Phe338Cys).
Ambry Genetics RCV001016959 SCV001177970 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-11 criteria provided, single submitter clinical testing The p.F338C variant (also known as c.1013T>G), located in coding exon 8 of the CDH1 gene, results from a T to G substitution at nucleotide position 1013. The phenylalanine at codon 338 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004567973 SCV005060089 uncertain significance Familial cancer of breast 2024-02-07 criteria provided, single submitter clinical testing

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