ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp)

dbSNP: rs1768948534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences RCV001260955 SCV001244255 likely pathogenic Salla disease 2019-12-05 criteria provided, single submitter research
GeneDx RCV004726874 SCV005333231 likely pathogenic not provided 2024-02-22 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; This variant is associated with the following publications: (PMID: 33547378, 36662855)
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001090089 SCV001244901 uncertain significance Sialic acid storage disease, severe infantile type no assertion criteria provided clinical testing

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