ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.840G>C (p.Ala280=)

gnomAD frequency: 0.00004  dbSNP: rs142772432
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233322 SCV000283950 likely benign Gastrointestinal stromal tumor 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444881 SCV002680275 likely benign Hereditary cancer-predisposing syndrome 2020-03-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002503889 SCV002803481 likely benign Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis 2021-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546462 SCV005042039 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing KIT: BP4, BP7

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