ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.154A>C (p.Ile52Leu)

dbSNP: rs1565690903
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690503 SCV000818190 uncertain significance Glucose-6-phosphate transport defect 2022-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 569791). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 52 of the SLC37A4 protein (p.Ile52Leu).

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