ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.492C>A (p.Ser164Arg) (rs369399624)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593826 SCV000700826 uncertain significance not provided 2015-04-06 criteria provided, single submitter clinical testing
Invitae RCV000705165 SCV000834150 uncertain significance Glucose-6-phosphate transport defect 2019-09-20 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 164 of the SLC37A4 protein (p.Ser164Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs369399624, ExAC 0.02%). This variant has not been reported in the literature in individuals with SLC37A4-related disease. ClinVar contains an entry for this variant (Variation ID: 496949). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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