ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr)

dbSNP: rs1432294427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674798 SCV000800196 uncertain significance Glucose-6-phosphate transport defect 2018-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674798 SCV002995255 uncertain significance Glucose-6-phosphate transport defect 2021-06-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 174 of the SLC37A4 protein (p.Ala174Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 558516). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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