ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8330C>A (p.Pro2777His) (rs376273136)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181349 SCV000233648 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing The P2777H variant of uncertain significance in the DSP gene has previously been reported in a 3 year-old male with LQTS who presented with sudden cardiac arrest, and in his unaffected mother (Pipilas et al., 2016). This individual also harbored a maternally inherited missense variant in the GJA5 gene and a de novo missense variant in the CALM1 gene identified by exome sequencing (Pipilas et al., 2016). This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The P2777H 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, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.

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