ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)

gnomAD frequency: 0.00001  dbSNP: rs367763339
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186586 SCV001353049 likely benign Cardiomyopathy 2023-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451386 SCV002611660 likely benign Cardiovascular phenotype 2022-01-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002480616 SCV002775928 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559939 SCV003439948 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-11-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008614 SCV004840088 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-12-07 criteria provided, single submitter clinical testing

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