ClinVar Miner

Submissions for variant NM_001348768.2(HECW2):c.4358C>T (p.Thr1453Ile)

dbSNP: rs749910927
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523616 SCV000621809 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the HECW2 gene. The T1453I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T1453I variant is observed in 1/111632 (0.001%) alleles from individuals of Eurropean background, in large population cohorts (Lek et al., 2016). The T1453I 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. Additionally, 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. 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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