ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val)

dbSNP: rs782429783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664910 SCV000788941 uncertain significance Glucose-6-phosphate transport defect 2017-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000664910 SCV002315256 uncertain significance Glucose-6-phosphate transport defect 2021-03-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 76 of the SLC37A4 protein (p.Ala76Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs782429783, ExAC 0.003%). This variant has not been reported in the literature in individuals with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 550220). 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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