ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7734C>T (p.Ser2578=) (rs28763970)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620556 SCV000736638 likely benign Cardiovascular phenotype 2016-07-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769242 SCV000900618 likely benign Cardiomyopathy 2016-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000124830 SCV000168269 benign not specified 2014-02-11 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.
Illumina Clinical Services Laboratory,Illumina RCV000339026 SCV000465214 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391733 SCV000465215 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309573 SCV000465216 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348027 SCV000465217 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587701 SCV000698446 benign not provided 2016-12-12 criteria provided, single submitter clinical testing Variant summary: The DSP c.7734C>T (p.Ser2578Ser) variant causes a synonymous change involving a non-conserved nucleotide, which 4/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 26/121388 (1/4668), predominantly in the African cohort, 24/10396 (1/433), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic DSP variant of 1/100,000. Therefore, suggesting that the variant of interest is a common polymorphism found in population(s) of African origin. The variant of interest has not been, to our knowledge, reported in affected individuals via publications. Multiple clinical diagnostic laboratories/databases cite the variant as "benign/likely benign." Therefore, the variant of interest has been classified as Benign.
Invitae RCV000457323 SCV000555759 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-10-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000124830 SCV000270173 likely benign not specified 2015-08-24 criteria provided, single submitter clinical testing p.Ser2578Ser in exon 24 of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (24/10396) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs28763970).

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