ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.148+2T>C

dbSNP: rs1449998297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664487 SCV000788453 likely pathogenic Glucose-6-phosphate transport defect 2018-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000664487 SCV002243900 pathogenic Glucose-6-phosphate transport defect 2021-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: 549913). Disruption of this splice site has been observed in individual(s) with SLC37A4-related conditions (PMID: 9675154, 10323254). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 3 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).
Baylor Genetics RCV000664487 SCV004202464 likely pathogenic Glucose-6-phosphate transport defect 2023-05-11 criteria provided, single submitter clinical testing

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