ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.985+1G>A

dbSNP: rs1943553565
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001283783 SCV003328946 likely pathogenic Glucose-6-phosphate transport defect 2022-03-12 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 992984). Disruption of this splice site has been observed in individual(s) with clinical features of glycogen storage disease (PMID: 11949931). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 8 of the SLC37A4 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), and loss-of-function variants in SLC37A4 are known to be pathogenic (PMID: 9758626, 10940311).
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283783 SCV001469166 pathogenic Glucose-6-phosphate transport defect 2020-02-05 no assertion criteria provided clinical testing

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