ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)

gnomAD frequency: 0.00007  dbSNP: rs368678559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001480476 SCV001684793 likely benign Glucose-6-phosphate transport defect 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501657 SCV002808294 likely benign Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2022-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671403 SCV005168824 likely benign Inborn genetic diseases 2024-04-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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