ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.607G>A (p.Asp203Asn)

gnomAD frequency: 0.00003  dbSNP: rs374100807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038071 SCV000061737 uncertain significance not specified 2016-05-18 criteria provided, single submitter clinical testing The p.Asp203Asn variant in DSP has been identified by our laboratory in one indi vidual with early onset severe left ventricular dysfunction and biventricular di lation. This variant has been identified in 1/4406 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs374100807). Computational prediction tools and conservation analysis do not pr ovide strong support for or against an impact to the protein. In summary, the cl inical significance of the p.Asp203Asn variant is uncertain.
Invitae RCV000699696 SCV000828419 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-09-25 criteria provided, single submitter clinical testing

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