ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1108G>A (p.Val370Met)

gnomAD frequency: 0.00006  dbSNP: rs751573593
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705042 SCV000243011 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001049146 SCV001213180 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2023-12-29 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 370 of the SLC2A1 protein (p.Val370Met). This variant is present in population databases (rs751573593, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLC2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 207207). 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 expected to disrupt SLC2A1 protein function with a positive predictive value of 95%. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252037 SCV002523504 uncertain significance See cases 2020-02-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553028 SCV004777696 uncertain significance SLC2A1-related disorder 2023-10-23 no assertion criteria provided clinical testing The SLC2A1 c.1108G>A variant is predicted to result in the amino acid substitution p.Val370Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.027% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-43393446-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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