ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.865G>A (p.Ala289Thr)

gnomAD frequency: 0.00001  dbSNP: rs796053252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189363 SCV000243001 likely pathogenic not provided 2024-09-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27467583)
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252036 SCV002524030 uncertain significance See cases 2019-06-14 criteria provided, single submitter clinical testing ACMG classification criteria: PM1, PM2, PP3

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