ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.985+270C>T

gnomAD frequency: 0.00001  dbSNP: rs782800127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439301 SCV000536342 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing The H349Y variant in the SLC37A4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H349Y variant was not observed in approximately 2,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The H349Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret H349Y as a variant of uncertain significance.
Counsyl RCV000664889 SCV000788916 likely benign Glucose-6-phosphate transport defect 2017-01-03 criteria provided, single submitter clinical testing

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