ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4419C>T (p.Ala1473=)

gnomAD frequency: 0.00001  dbSNP: rs727504542
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Total submissions: 3
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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 RCV000155695 SCV000205405 likely benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ala1473Ala 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. Ala1473Ala in exon 23 of DSP (allele frequenc y = n/a)
Color Diagnostics, LLC DBA Color Health RCV001186914 SCV001353526 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Invitae RCV002515000 SCV003521437 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-07-14 criteria provided, single submitter clinical testing

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