ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2324-1G>C

dbSNP: rs1577741394
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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 RCV000794992 SCV000934430 uncertain significance Gastrointestinal stromal tumor 2023-11-10 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 16 of the PDGFRA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PDGFRA cause disease. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of PDGFRA-related conditions (PMID: 36113475). ClinVar contains an entry for this variant (Variation ID: 641692). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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