ClinVar Miner

Submissions for variant NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys)

dbSNP: rs149680468
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV003335089 SCV004046385 likely pathogenic FBXW7-related neurodevelopmental disorder criteria provided, single submitter clinical testing This variant has not been previously reported or functionally characterized in the literature to our knowledge. A different amino acid change at the same residue (p.Arg505His) has been previously reported in an individual with FBXW7-related disorder (PMID: 35395208). The c.1513C>T (p.Arg505Cys) variant is absent from the gnomAD population database and thus is presumed to be rare. The c.1513C>T (p.Arg505Cys) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.1513C>T (p.Arg505Cys) variant is classified as Likely Pathogenic.
Database of Curated Mutations (DoCM) RCV000428536 SCV000506286 likely pathogenic Uterine carcinosarcoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438775 SCV000506287 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422076 SCV000506288 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432318 SCV000506289 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444218 SCV000506290 likely pathogenic Neoplasm of uterine cervix 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422275 SCV000506291 likely pathogenic Ovarian serous cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433395 SCV000506292 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444088 SCV000506293 likely pathogenic B-cell chronic lymphocytic leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426925 SCV000506294 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437170 SCV000506295 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443061 SCV000506296 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427176 SCV000506297 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only

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