ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr)

dbSNP: rs1452797070
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673556 SCV000798771 uncertain significance Glucose-6-phosphate transport defect 2018-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673556 SCV001567674 uncertain significance Glucose-6-phosphate transport defect 2020-03-16 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 557414). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 187 of the SLC37A4 protein (p.Ile187Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine.

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