ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1040T>C (p.Ile347Thr) (rs757208743)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658318 SCV000780090 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSP gene. The I347T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 2/245492 (0.0008%) alleles from individuals of multiple ethnic backgrounds in large population cohorts (Lek et al., 2016). The I347T 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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