ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.388A>G (p.Asn130Asp)

gnomAD frequency: 0.00001  dbSNP: rs764213036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542136 SCV000630497 uncertain significance Gastrointestinal stromal tumor 2023-04-16 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 458945). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs764213036, gnomAD 0.007%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 130 of the KIT protein (p.Asn130Asp).
Ambry Genetics RCV001021361 SCV001182969 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-11 criteria provided, single submitter clinical testing The p.N130D variant (also known as c.388A>G), located in coding exon 3 of the KIT gene, results from an A to G substitution at nucleotide position 388. The asparagine at codon 130 is replaced by aspartic acid, an amino acid with highly similar 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.

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