ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) (rs148478829)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253751 SCV000319584 likely benign Cardiovascular phenotype 2015-05-07 criteria provided, single submitter clinical testing
Color RCV000771828 SCV000904540 likely benign Cardiomyopathy 2018-06-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269608 SCV000465018 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327042 SCV000465019 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384019 SCV000465020 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291041 SCV000465021 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000038034 SCV000917312 benign not specified 2018-11-23 criteria provided, single submitter clinical testing Variant summary: DSP c.4065T>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 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 0.00083 in 276350 control chromosomes in the gnomAD database, including 1 homozygote. The observed variant frequency is approximately 80 fold of the estimated maximal expected allele frequency for a pathogenic variant in DSP causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.4065T>C in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign (1x) / likely benign (2x). Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000463312 SCV000555751 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038034 SCV000061700 benign not specified 2018-04-04 criteria provided, single submitter clinical testing Tyr1355Tyr in exon 23 of DSP: This variant is classified as benign because it d oes not alter an amino acid residue and is not located within the splice consens us sequence. Computational tools do not predict an impact on splicing. It has b een identified in 0.1% (158/126102) of European chromosomes by the Genome Aggreg ation Databsae (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs148478829). AC MG/AMP Criteria applied: BA1; BP4; BP7.

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