ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.1099G>A (p.Ala367Thr) (rs80356492)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000059118 SCV000331845 uncertain significance not provided 2017-02-03 criteria provided, single submitter clinical testing
Counsyl RCV000288403 SCV000798128 uncertain significance Glucose-6-phosphate transport defect 2018-02-26 criteria provided, single submitter clinical testing
Invitae RCV000288403 SCV000933754 uncertain significance Glucose-6-phosphate transport defect 2018-12-12 criteria provided, single submitter clinical testing This sequence change replaces Ala with Thr at codon 367 of the SLC37A4 protein (p.Ala367Thr). The Ala residue is highly conserved and there is a small physicochemical difference between Ala and Thr. This variant is present in population databases (rs80356492, ExAC 0.01%). This variant has been observed in individuals with glycogen storage disease type Ib (PMID: 10518030, 10923042). This variant is also know as c.1268G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 21298). This variant has been reported to affect SLC37A4 protein function (PMID: 18835800, 12444104). 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.
UniProtKB/Swiss-Prot RCV000059118 SCV000090647 not provided not provided no assertion provided not provided

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