ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.1804A>G (p.Ile602Val)

gnomAD frequency: 0.00001  dbSNP: rs751375939
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236266 SCV000292879 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing The I602V variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It was not observed 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 I602V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species, and Valine is observed at this position in other vertebrate species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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