ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly)

dbSNP: rs782470624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673126 SCV000798294 uncertain significance Glucose-6-phosphate transport defect 2018-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673126 SCV004392298 uncertain significance Glucose-6-phosphate transport defect 2023-01-20 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC37A4 protein function. ClinVar contains an entry for this variant (Variation ID: 557038). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. This variant is present in population databases (rs782470624, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 41 of the SLC37A4 protein (p.Glu41Gly).

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