ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6351T>C (p.Asp2117=) (rs148743859)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620343 SCV000738192 likely benign Cardiovascular phenotype 2017-10-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000150577 SCV000724245 likely benign not specified 2017-10-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000586587 SCV000698443 benign not provided 2016-08-09 criteria provided, single submitter clinical testing Variant summary: The DSP c.6351T>C (p.Asp2117Asp) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. This variant was found in 11/121018 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.0001653 (11/66564). This frequency is about 17 times the estimated maximal expected allele frequency of a pathogenic DSP variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. In addition, one clinical diagnostic laboratories/reputable databases has classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Due to the synonymous nature of this variant, the lack of predicted effect on splicing, and the relatively high frequency in the normal population, this variant is classified as benign.
Invitae RCV000641841 SCV000763491 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150577 SCV000197836 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asp2117Asp in exon 24 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 3/7020 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs148743859). Asp2117Asp in exon 24 of DSP (rs148743859; allele frequency = 0.04%, 3/7020) **

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