ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5400C>G (p.Asp1800Glu)

dbSNP: rs779973472
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521461 SCV000619598 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing The D1800E variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D1800E variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.

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