ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1199A>G (p.Asn400Ser)

gnomAD frequency: 0.00215  dbSNP: rs72549294
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001083741 SCV000261564 benign Gastrointestinal stromal tumor 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010251 SCV001170419 benign Hereditary cancer-predisposing syndrome 2019-01-30 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000034502 SCV002038875 likely benign not provided 2021-06-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001010251 SCV002536380 benign Hereditary cancer-predisposing syndrome 2020-12-01 criteria provided, single submitter curation
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034502 SCV000043279 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
PreventionGenetics, part of Exact Sciences RCV003904893 SCV004727790 benign KIT-related disorder 2019-12-24 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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