ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1431_1432delinsGC (p.His477_Ser478delinsGlnPro)

dbSNP: rs1723530523
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208958 SCV001380375 uncertain significance Gastrointestinal stromal tumor 2022-05-12 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant, c.1431_1432delinsGC, is a complex sequence change that results in the deletion of histidine serine, and insertion of glutamine amino acid(s) in the PDGFRA protein (p.His477_Ser478delinsGlnPro). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. ClinVar contains an entry for this variant (Variation ID: 939540). 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.

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