ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1821A>G (p.Lys607=) (rs768675424)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780211 SCV000917292 likely benign not specified 2018-04-02 criteria provided, single submitter clinical testing Variant summary: DSP c.1821A>G alters a non-conserved nucleotide resulting in a synonymous change. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.8e-05 in 246042 control chromosomes (gnomAD). The observed variant frequency is approximately 3 fold above the estimated maximal expected allele frequency for a pathogenic variant in DSP causing Arrhythmia phenotype (1e-05). Additionally, all variant alleles in gnomAD were identified in the non-Finnish European subpopulation (6e-04), which is approximately 6 fold above the maximal expected allele frequency, suggesting that the variant is benign. However, evidence from ExAC and gnomAD data must be interpreted cautiously with regard to cardiac disorders since cohorts known to include patients with cardiac disease. To our knowledge, no occurrence of c.1821A>G in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.

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