ClinVar Miner

Submissions for variant NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His)

gnomAD frequency: 0.00001  dbSNP: rs774651252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990427 SCV001141413 likely pathogenic Congenital glucose-galactose malabsorption 2019-05-28 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000990427 SCV003806925 likely pathogenic Congenital glucose-galactose malabsorption 2023-02-02 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PM3 supporting, PM5 moderated, PP3 supporting, PP4

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