ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.202T>G (p.Tyr68Asp)

dbSNP: rs1060501218
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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 RCV000463675 SCV000545377 uncertain significance Hereditary diffuse gastric adenocarcinoma 2018-10-01 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CDH1-related disease. This sequence change replaces tyrosine with aspartic acid at codon 68 of the CDH1 protein (p.Tyr68Asp). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and aspartic acid.
Ambry Genetics RCV000566254 SCV000666303 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-06 criteria provided, single submitter clinical testing The p.Y68D variant (also known as c.202T>G), located in coding exon 3 of the CDH1 gene, results from a T to G substitution at nucleotide position 202. The tyrosine at codon 68 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002480372 SCV002788216 uncertain significance Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Malignant tumor of prostate 2022-04-27 criteria provided, single submitter clinical testing

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