ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser) (rs185367490)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181314 SCV000233608 uncertain significance not provided 2013-08-27 criteria provided, single submitter clinical testing p.Asn1234Ser (AAT>AGT): c.3701 A>G in exon 23 of the DSP gene (NM_004415.2). The Asn1234Ser variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Asn1234Ser results in a conservative amino acid substitution of one polar amino acid for another at a position that is mostly conserved in mammals. In silico analysis predicts Asn1234Ser is benign to the protein structure/function. No mutations in nearby residues have been reported in association with ARVC, indicating this region of the protein may be tolerant to change. The 1,000 genomes database identified Asn1234Ser with a frequency of 0.2%, 1/572 alleles, in individuals of Asian ancestry. However, the Asn1234Ser variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. With the clinical and molecular information available at this time, we cannot definitively determine if Asn1234Ser is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).
Color RCV000778030 SCV000914142 likely benign Cardiomyopathy 2018-10-03 criteria provided, single submitter clinical testing
Invitae RCV001079445 SCV001010234 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2019-12-31 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000181314 SCV000924773 likely benign not provided no assertion criteria provided provider interpretation

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