ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys)

gnomAD frequency: 0.00010  dbSNP: rs569831771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665965 SCV000790186 uncertain significance Glucose-6-phosphate transport defect 2017-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665965 SCV003446671 uncertain significance Glucose-6-phosphate transport defect 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 24 of the SLC37A4 protein (p.Tyr24Cys). This variant is present in population databases (rs569831771, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 551015). 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.

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