ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.185T>G (p.Ile62Ser) (rs1555191621)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673130 SCV000798298 uncertain significance Glucose-6-phosphate transport defect 2018-03-06 criteria provided, single submitter clinical testing
Invitae RCV000673130 SCV001406963 uncertain significance Glucose-6-phosphate transport defect 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with serine at codon 62 of the SLC37A4 protein (p.Ile62Ser). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 557042). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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