ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.903G>A (p.Ala301=)

gnomAD frequency: 0.00002  dbSNP: rs776461617
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704788 SCV000729450 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000904143 SCV001048646 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-25 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224350 SCV003920482 uncertain significance Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 2021-03-30 criteria provided, single submitter clinical testing SLC2A1 NM_006516 exon 7 p.Ala301Ala (c.903G>A): This variant has not been reported in the literature but is present in 8/33504 Latino individuals in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs776461617). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV004547752 SCV004715766 likely benign SLC2A1-related disorder 2020-12-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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