ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2673T>C (p.Tyr891=) (rs146407262)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038012 SCV000061678 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Tyr891Tyr in Exon 19 of DSP: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 2.3% (87/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs146407262).
GeneDx RCV000038012 SCV000168260 benign not specified 2014-01-23 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.
Invitae RCV000228508 SCV000288531 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344374 SCV000464942 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405620 SCV000464943 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284266 SCV000464944 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339335 SCV000464945 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587575 SCV000698426 benign not provided 2016-09-19 criteria provided, single submitter clinical testing Variant summary: The DSP c.2673T>C (p.Tyr891Tyr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 257/121370 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0239654 (249/10390). This frequency is about 959 times the estimated maximal expected allele frequency of a pathogenic DSP variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories have classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as Benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769223 SCV000900599 benign Cardiomyopathy 2017-03-07 criteria provided, single submitter clinical testing
Color RCV000769223 SCV000904531 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing

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