ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3696C>A (p.Ser1232=) (rs141120358)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617930 SCV000737006 likely benign Cardiovascular phenotype 2015-09-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000771834 SCV000904547 benign Cardiomyopathy 2018-09-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038030 SCV000228051 likely benign not specified 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000038030 SCV000512879 benign not specified 2015-09-18 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 RCV000589193 SCV000698433 benign not provided 2016-04-05 criteria provided, single submitter clinical testing Variant Summary: The variant of interest causes a synonymous change involving a non-conserved nucleotide with 5/5 in silico programs via Alamut predicting no significant effect on splicing, 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 55/120418 (1/2189), predominantly in the African cohort, 52/10138 (1/194), which exceeds the predicted maximum expected allele frequency for a pathogenic DSP variant of 1/100000. Therefore, suggesting that the variant is a common polymorphism found in population(s) of African origin. In addition, multiple reputable clinical laboratories cite the variant with a classification of "likely benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.
Invitae RCV000456441 SCV000555773 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038030 SCV000061696 likely benign not specified 2012-03-15 criteria provided, single submitter clinical testing Ser1232Ser in exon 23 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. This variant has been identified in 0.2% (8/37 38) of African American chromosomes from a broad population by the NHLBI Exome S equencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs141120358). Ser123 2Ser in exon 23 of DSP (rs141120358; allele frequency = 0.2%, 8/3738) **

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