ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.1A>G (p.Met1Val) (rs786204740)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169589 SCV000221097 likely pathogenic Glucose-6-phosphate transport defect 2015-01-28 criteria provided, single submitter literature only
Invitae RCV000169589 SCV001213980 pathogenic Glucose-6-phosphate transport defect 2019-11-20 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the SLC37A4 mRNA. The next in-frame methionine is located at codon 17. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with glycogen storage disease (PMID: 10482962). 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 also known as A170G, M1V in the literature. ClinVar contains an entry for this variant (Variation ID: 189162). This variant has been reported to affect SLC37A4 protein function (PMID: 10482962). For these reasons, this variant has been classified as Pathogenic.

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