ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)

gnomAD frequency: 0.00001  dbSNP: rs561701030
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084431 SCV001113624 benign Glucose-6-phosphate transport defect 2025-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000966318 SCV001148476 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001084431 SCV001457214 uncertain significance Glucose-6-phosphate transport defect 2020-04-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003972853 SCV004786956 likely benign SLC37A4-related disorder 2022-02-01 no assertion criteria provided 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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