ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe) (rs763521707)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000582570 SCV000692259 uncertain significance Bicuspid aortic valve 2015-11-19 no assertion criteria provided clinical testing
GeneDx RCV000199139 SCV000250720 uncertain significance not provided 2016-03-31 criteria provided, single submitter clinical testing A variant of unknown significance has been identified in the SLC2A10 gene. The S310F variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The S310F variant was not observed with any significant frequency in approximately 6,500 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 S310F 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. This substitution occurs at a position that is variable in its conservation across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, no missense mutations in nearby residues have been reported in association with areterial tortuosity syndrome or TAAD, indicating that this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

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